Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

DNA Copy Number Variations / genetics Female Fibroblast Growth Factor 10 / genetics Gene Expression Regulation Gestational Age Humans Infant, Newborn Infant, Newborn, Diseases / genetics Lung / embryology Lung Diseases / genetics Male Maternal Inheritance Organogenesis Paternal Inheritance Pedigree Polymorphism, Single Nucleotide / genetics Receptor, Fibroblast Growth Factor, Type 2 / metabolism Signal Transduction / genetics T-Box Domain Proteins / genetics
17q23.1q23.2 recurrent deletion 5p12 deletion T-box transcription factor 4 aplasia of lacrimal and salivary glands fibroblast growth factor 10 lacrimoauriculodentodigital (LAAD) syndrome lung hypoplasia neonatal lung disease

Journal

American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475

Informations de publication

Date de publication:
07 02 2019
Historique:
received: 08 10 2018
accepted: 13 12 2018
pubmed: 15 1 2019
medline: 20 11 2019
entrez: 15 1 2019
Statut: ppublish

Résumé

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung development, we studied a unique collection of samples obtained from deceased individuals with clinically and histopathologically diagnosed interstitial neonatal lung disorders: acinar dysplasia (n = 14), congenital alveolar dysplasia (n = 2), and other lethal lung hypoplasias (n = 10). We identified rare heterozygous copy-number variant deletions or single-nucleotide variants (SNVs) involving TBX4 (n = 8 and n = 2, respectively) or FGF10 (n = 2 and n = 2, respectively) in 16/26 (61%) individuals. In addition to TBX4, the overlapping ∼2 Mb recurrent and nonrecurrent deletions at 17q23.1q23.2 identified in seven individuals with lung hypoplasia also remove a lung-specific enhancer region. Individuals with coding variants involving either TBX4 or FGF10 also harbored at least one non-coding SNV in the predicted lung-specific enhancer region, which was absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies. The occurrence of rare coding variants involving TBX4 or FGF10 with the putative hypomorphic non-coding SNVs implies a complex compound inheritance of these pulmonary hypoplasias. Moreover, they support the importance of TBX4-FGF10-FGFR2 epithelial-mesenchymal signaling in human lung organogenesis and help to explain the histopathological continuum observed in these rare lethal developmental disorders of the lung.

Identifiants

DOI: 10.1016/j.ajhg.2018.12.010 PMID: 30639323 PMC: PMC6369446
pubmed: 30639323
pii: S0002-9297(18)30461-0
doi: 10.1016/j.ajhg.2018.12.010
pmc: PMC6369446
pii:
doi:

Substances chimiques

FGF10 protein, human 0
Fibroblast Growth Factor 10 0
T-Box Domain Proteins 0
TBX4 protein, human 0
FGFR2 protein, human EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 2 EC 2.7.10.1

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

213-228

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHGRI NIH HHS
ID : UM1 HG006542
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS105078
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NHLBI NIH HHS
ID : R01 HL137203
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007454
Pays : United States

Informations de copyright

Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Références

Nat Rev Dis Primers. 2015 Nov 19;1:15071
pubmed: 27189754
J Orthop Case Rep. 2018 Jan-Feb;8(1):85-88
pubmed: 29854702
Development. 2008 Aug;135(15):2543-53
pubmed: 18579682
Development. 2003 Apr;130(7):1225-34
pubmed: 12588840
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Cell Rep. 2016 Nov 15;17(8):2042-2059
pubmed: 27851967
Hum Genet. 2006 Sep;120(2):227-37
pubmed: 16791615
N Engl J Med. 2015 Jan 22;372(4):341-50
pubmed: 25564734
Saudi Med J. 2003 Jan;24(1):88-90
pubmed: 12590284
Am J Physiol Lung Cell Mol Physiol. 2017 Nov 1;313(5):L733-L740
pubmed: 28798251
Am J Hum Genet. 2009 Apr;84(4):524-33
pubmed: 19344873
Genet Med. 2003 Nov-Dec;5(6):430-4
pubmed: 14614393
Semin Fetal Neonatal Med. 2017 Aug;22(4):227-233
pubmed: 28363760
Circ Genom Precis Med. 2018 Apr;11(4):e001887
pubmed: 29631995
Science. 2018 Apr 20;360(6386):327-331
pubmed: 29674594
Nat Genet. 2006 Apr;38(4):414-7
pubmed: 16501574
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Am J Hum Genet. 2016 Oct 6;99(4):903-911
pubmed: 27640304
Hum Mol Genet. 2018 Jul 15;27(14):2454-2465
pubmed: 29726930
Development. 1999 Dec;126(24):5771-83
pubmed: 10572052
Hum Genet. 2016 May;135(5):569-586
pubmed: 27071622
J Pediatr. 2019 Mar;206:286-292.e1
pubmed: 30413314
Pediatrics. 1948 Jul;2(1):43-57
pubmed: 18874463
Bioinformatics. 2014 Aug 1;30(15):2114-20
pubmed: 24695404
Dev Dyn. 2006 Nov;235(11):2980-90
pubmed: 16937369
Genome Res. 2013 Jan;23(1):23-33
pubmed: 23034409
J Med Genet. 1998 Nov;35(11):964-5
pubmed: 9832050
Dev Biol. 2005 Nov 1;287(1):86-97
pubmed: 16169547
Histopathology. 1998 Jan;32(1):57-9
pubmed: 9522217
Pathology. 1991 Jan;23(1):69-71
pubmed: 2062571
Clin Genet. 2006 Apr;69(4):349-54
pubmed: 16630169
Pathology. 2013 Jan;45(1):38-43
pubmed: 23196904
Nat Genet. 2016 Sep;48(9):1060-5
pubmed: 27479907
PLoS Genet. 2009 Jan;5(1):e1000327
pubmed: 19180184
Hum Pathol. 1986 Dec;17(12):1290-3
pubmed: 3793091
Eur J Med Genet. 2015 Apr;58(4):244-8
pubmed: 25655469
Am J Med Genet A. 2016 Sep;170(9):2440-4
pubmed: 27374786
Cell. 2013 Nov 7;155(4):934-47
pubmed: 24119843
Genetics. 1996 Sep;144(1):249-54
pubmed: 8878690
Nature. 2016 Aug 17;536(7616):285-91
pubmed: 27535533
Nat Genet. 1999 Jan;21(1):138-41
pubmed: 9916808
Am J Physiol Lung Cell Mol Physiol. 2018 Jan 1;314(1):L177-L191
pubmed: 28971975
Dev Dyn. 2003 Jan;226(1):82-90
pubmed: 12508227
Am J Hum Genet. 2004 Jun;74(6):1239-48
pubmed: 15106123
J Med Genet. 2013 Aug;50(8):500-6
pubmed: 23592887
Am J Med Genet A. 2011 Dec;155A(12):2964-9
pubmed: 22052739
Clin Oral Investig. 2017 Jan;21(1):167-172
pubmed: 26955834
Hum Mol Genet. 2019 Feb 15;28(4):539-547
pubmed: 30307510
Nature. 2018 Mar 29;555(7698):611-616
pubmed: 29562236
Ann Am Thorac Soc. 2013 Apr;10(2):S12-6
pubmed: 23607856
Genome Med. 2013 Jun 27;5(6):57
pubmed: 23806086
Nat Genet. 2012 Feb 26;44(4):435-9, S1-2
pubmed: 22366785
Dev Dyn. 2009 Aug;238(8):1999-2013
pubmed: 19618463
AJP Rep. 2013 May;3(1):9-12
pubmed: 23943701
J Med Genet. 2011 Oct;48(10):705-9
pubmed: 21742743
Development. 2017 Jun 15;144(12):2200-2211
pubmed: 28506999
Pediatr Dev Pathol. 2014 Sep-Oct;17(5):374-81
pubmed: 24971487
Dev Cell. 2016 Oct 24;39(2):239-253
pubmed: 27720610
Acta Paediatr. 2007 Aug;96(8):1248-50
pubmed: 17590189
Hum Mutat. 2016 Sep;37(9):955-63
pubmed: 27323706
Pediatr Crit Care Med. 2007 Nov;8(6):580-1
pubmed: 17914309
Cell Death Differ. 2009 Feb;16(2):331-9
pubmed: 19008920
Am J Hum Genet. 2007 Feb;80(2):232-40
pubmed: 17236129
Eur J Hum Genet. 2007 Mar;15(3):379-82
pubmed: 17213838
Pediatr Dev Pathol. 2009 Nov-Dec;12(6):421-37
pubmed: 19323600
PLoS Genet. 2012;8(8):e1002866
pubmed: 22876201
Am J Med Genet A. 2014 Aug;164A(8):2013-9
pubmed: 24842713
Fetal Pediatr Pathol. 2012 Aug;31(4):217-24
pubmed: 22413819
Am J Clin Pathol. 2006 Aug;126(2):256-65
pubmed: 16891202
Am J Med Genet A. 2011 Feb;155A(2):418-23
pubmed: 21271665
BMC Med Genet. 2018 May 30;19(1):89
pubmed: 29843651
Nat Genet. 2005 Feb;37(2):125-7
pubmed: 15654336
Clin Genet. 2018 Jul;94(1):43-53
pubmed: 29322497
Development. 1997 Dec;124(23):4867-78
pubmed: 9428423
Am J Hum Genet. 2010 Mar 12;86(3):454-61
pubmed: 20206336
Hum Mol Genet. 2015 Oct 15;24(R1):R102-10
pubmed: 26152199
Acta Paediatr. 2004 May;93(5):712-3
pubmed: 15174801
Am J Hum Genet. 2018 Aug 2;103(2):171-187
pubmed: 30032986
Fetal Pediatr Pathol. 2014 Apr;33(2):109-13
pubmed: 24467188
Pediatr Surg Int. 2017 Feb;33(2):139-143
pubmed: 27833996
PLoS Genet. 2013;9(1):e1003189
pubmed: 23341776
Pediatr Dev Pathol. 2007 Sep-Oct;10(5):335-47
pubmed: 17929994
Front Genet. 2018 Oct 31;9:517
pubmed: 30429870

Auteurs

Justyna A Karolak (JA)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, 60-781 Poznan, Poland.

Marie Vincent (M)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Gail Deutsch (G)

Department of Pathology, Seattle Children's Hospital, Seattle, WA 98105, USA.

Tomasz Gambin (T)

Department of Medical Genetics, Institute of Mother and Child, 01-211 Warsaw, Poland; Institute of Computer Science, Warsaw University of Technology, 00-665 Warsaw, Poland.

Benjamin Cogné (B)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Olivier Pichon (O)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France.

Francesco Vetrini (F)

Baylor Genetics, Houston, TX 77021, USA.

Heather C Mefford (HC)

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA.

Jennifer N Dines (JN)

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

Katie Golden-Grant (K)

Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.

Katrina Dipple (K)

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.

Amanda S Freed (AS)

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

Kathleen A Leppig (KA)

Genetic Services Kaiser Permanente of Washington, Seattle, WA 98112, USA.

Megan Dishop (M)

Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.

David Mowat (D)

Centre for Clinical Genetics, Sydney Children's Hospital, Randwick Sydney, NSW 2031 Australia; School of Women's and Children's Health, The University of New South Wales, Sydney, NSW 2052, Australia.

Bruce Bennetts (B)

Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia; Molecular Genetics Department, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, NSW 2006, Australia.

Andrew J Gifford (AJ)

School of Women's and Children's Health, The University of New South Wales, Sydney, NSW 2052, Australia; Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia.

Martin A Weber (MA)

Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW 2031, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW 2052, Australia.

Anna F Lee (AF)

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC V6T 2B5, Canada.

Cornelius F Boerkoel (CF)

Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.

Tina M Bartell (TM)

Department of Genetics, Kaiser Permanente Sacramento Medical Center, Sacramento, CA 95815, USA.

Catherine Ward-Melver (C)

Division of Medical Genetics, Akron Children's Hospital, Akron, OH 44302, USA.

Thomas Besnard (T)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Florence Petit (F)

Service de Génétique Clinique, CHU Lille, 59000 Lille, France.

Iben Bache (I)

Department of Cellular and Molecular Medicine, University of Copenhagen, 2200 N Copenhagen, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Ø Copenhagen, Denmark.

Zeynep Tümer (Z)

Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Copenhagen, Denmark; Deparment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 N, Copenhagen, Denmark.

Marie Denis-Musquer (M)

Service d'anatomo-pathologie, CHU Nantes, 44093 Nantes, France.

Madeleine Joubert (M)

Service d'anatomo-pathologie, CHU Nantes, 44093 Nantes, France.

Jelena Martinovic (J)

Unit of Fetal Pathology, AP-HP, Antoine Beclere Hospital, 75000 Paris, France.

Claire Bénéteau (C)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Arnaud Molin (A)

Service de Génétique Médicale, CHU Caen, 14000 Caen, France.

Dominique Carles (D)

Service d'anatomo-pathologie, CHU Bordeaux, 33000 Bordeaux, France.

Gwenaelle André (G)

Service d'anatomo-pathologie, CHU Bordeaux, 33000 Bordeaux, France.

Eric Bieth (E)

Service de génétique médicale, CHU Toulouse, France and UDEAR, UMR 1056 Inserm - Université de Toulouse, 31000 Toulouse, France.

Nicolas Chassaing (N)

Service de génétique médicale, CHU Toulouse, France and UDEAR, UMR 1056 Inserm - Université de Toulouse, 31000 Toulouse, France.

Louise Devisme (L)

Institut de Pathologie, CHU Lille, 59000 Lille, France.

Lara Chalabreysse (L)

Service d'anatomo-pathologie, CHU Lyon, 69000 Lyon, France.

Laurent Pasquier (L)

Service de génétique médicale, CHU Rennes, 35000 Rennes, France.

Véronique Secq (V)

Aix Marseille Univ, APHM, Hôpital Nord, Service d'anatomo-pathologie, 13000 Marseille, France.

Massimiliano Don (M)

Sant'Antonio General Hospital, Pediatric Care Unit, San Daniele del Friuli, 33100 Udine, Italy.

Maria Orsaria (M)

Department of Medical and Biological Sciences, Pathology Unit, University of Udine, Udine, Italy.

Chantal Missirian (C)

Aix Marseille Univ, APHM, INSERM, MMG, Marseille, Timone Hospital, 13000 Marseille, France.

Jérémie Mortreux (J)

Aix Marseille Univ, APHM, INSERM, MMG, Marseille, Timone Hospital, 13000 Marseille, France.

Damien Sanlaville (D)

Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France.

Linda Pons (L)

Hospices Civils de Lyon, GHE, Genetics department, and Lyon University, 69000 Lyon, France.

Sébastien Küry (S)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Stéphane Bézieau (S)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Jean-Michel Liet (JM)

Service de réanimation pédiatrique, CHU Nantes, 44000 Nantes, France.

Nicolas Joram (N)

Service de réanimation pédiatrique, CHU Nantes, 44000 Nantes, France.

Tiphaine Bihouée (T)

Service de pédiatrie, CHU Nantes, 44000 Nantes, France.

Daryl A Scott (DA)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

Chester W Brown (CW)

Department of Pediatrics, Genetics Division, University of Tennessee Health Science Center, Memphis, TN 38163, USA.

Fernando Scaglia (F)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, New Territories, Hong Kong SAR.

Anne Chun-Hui Tsai (AC)

Department of Pediatrics, The Children's Hospital, University of Colorado School of Medicine, Aurora, CO 80045, USA.

Dorothy K Grange (DK)

Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.

John A Phillips (JA)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

Jean P Pfotenhauer (JP)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

Shalini N Jhangiani (SN)

Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

Claudia G Gonzaga-Jauregui (CG)

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc. Tarrytown, NY 10599, USA.

Wendy K Chung (WK)

Departments of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.

Galen M Schauer (GM)

Department of Pathology, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.

Mark H Lipson (MH)

Department of Genetics, Kaiser Permanente Sacramento Medical Center, Sacramento, CA 95815, USA.

Catherine L Mercer (CL)

Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Princess Anne Hospital, Southampton SO16 5YA, UK.

Arie van Haeringen (A)

Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.

Qian Liu (Q)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Edwina Popek (E)

Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX 77030, USA.

Zeynep H Coban Akdemir (ZH)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

James R Lupski (JR)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Przemyslaw Szafranski (P)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Bertrand Isidor (B)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France; Inserm, CNRS, Univ Nantes, l'institut du thorax, 44000 Nantes, France.

Cedric Le Caignec (C)

Service de Génétique Médicale, CHU de Nantes, 44000 Nantes, France. Electronic address: cedric.lecaignec@chu-nantes.fr.

Paweł Stankiewicz (P)

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address: pawels@bcm.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Facteurs de croissance fibroblastique › Facteur de croissance fibroblastique de type 10 › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Âge gestationnel › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Appareil respiratoire › Poumon › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Maladies pulmonaires › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité extrachromosomique › Hérédité maternelle › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes physiologiques des appareils urinaire et reproducteur › Phénomènes physiologiques de la reproduction › Reproduction › Développement embryonnaire et foetal › Organogenèse › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Hérédité paternelle › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Polymorphisme de nucléotide simple › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs peptidiques › Récepteur facteur croissance › Récepteur facteur croissance fibroblaste › Récepteur FGFR2 › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Transduction du signal › Complex Compound Inheritance of Lethal Lung...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines à domaine boîte-T › Complex Compound Inheritance of Lethal Lung...