A Novel Homozygous Nonsense Variant in the
DYM gene
Dyggve-Melchior-Clausen Syndrome
homozgosity mapping
non-sense variant
novel homozygous
sanger sequencing
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
17 02 2023
17 02 2023
Historique:
received:
13
01
2023
revised:
09
02
2023
accepted:
15
02
2023
entrez:
25
2
2023
pubmed:
26
2
2023
medline:
3
3
2023
Statut:
epublish
Résumé
(1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the
Identifiants
pubmed: 36833437
pii: genes14020510
doi: 10.3390/genes14020510
pmc: PMC9956627
pii:
doi:
Substances chimiques
Intracellular Signaling Peptides and Proteins
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Références
J Med Genet. 1990 Aug;27(8):512-5
pubmed: 2213845
PLoS Genet. 2014 May 01;10(5):e1004311
pubmed: 24786642
Clin Dysmorphol. 2014 Jan;23(1):1-7
pubmed: 24300288
Am J Med Genet. 1997 Oct 3;72(1):11-7
pubmed: 9295067
J Bone Joint Surg Am. 1982 Mar;64(3):408-15
pubmed: 6277958
Eur J Med Genet. 2008 May-Jun;51(3):251-6
pubmed: 18243083
Ultrasound Obstet Gynecol. 2009 Aug;34(2):160-70
pubmed: 19548204
Nucleic Acids Res. 2021 Jan 8;49(D1):D605-D612
pubmed: 33237311
Acta Paediatr Scand. 1983 Mar;72(2):269-74
pubmed: 6404126
Pediatr Endocrinol Rev. 2013 Dec;11(2):181-5
pubmed: 24575553
Protein Sci. 2018 Jan;27(1):129-134
pubmed: 28875543
Clin Dysmorphol. 2009 Jan;18(1):41-44
pubmed: 19005420
Am J Hum Genet. 2003 Feb;72(2):419-28
pubmed: 12491225
J Med Genet. 2005 Dec;42(12):e70
pubmed: 16326827
Pediatr Radiol. 2003 Mar;33(3):153-61
pubmed: 12612812
Am J Med Genet A. 2015 Dec;167A(12):2869-92
pubmed: 26394607
Am J Med Genet A. 2011 May;155A(5):943-68
pubmed: 21438135
Hum Mol Genet. 2003 Feb 1;12(3):357-64
pubmed: 12554689
Hum Mutat. 2013 Feb;34(2):283-6
pubmed: 23042644
Indian J Hum Genet. 2011 May;17(2):97-9
pubmed: 22090722
Hum Mol Genet. 2009 Feb 1;18(3):440-53
pubmed: 18996921
Mol Biol Rep. 2020 Sep;47(9):7083-7088
pubmed: 32886330
BMC Bioinformatics. 2008 Jan 23;9:40
pubmed: 18215316
Eur J Pediatr. 2011 Jan;170(1):121-6
pubmed: 20865280
Mol Genet Metab. 2004 Sep-Oct;83(1-2):51-9
pubmed: 15464420
Hum Mol Genet. 2015 May 15;24(10):2771-83
pubmed: 25652408
J Med Genet. 2002 Oct;39(10):714-7
pubmed: 12362026
Am J Med Genet A. 2006 Feb 1;140(3):212-21
pubmed: 16411218
Am J Med Genet A. 2005 Sep 15;138(1):75-8
pubmed: 16097008
Hum Mutat. 2011 Feb;32(2):231-9
pubmed: 21280149
Mol Syndromol. 2022 Jul;13(4):350-359
pubmed: 36158050
Protein Sci. 2009 Dec;18(12):2624-8
pubmed: 19785006
Indian Pediatr. 2010 Nov;47(11):973-5
pubmed: 21149903
Front Pediatr. 2020 Jul 16;8:383
pubmed: 32766185