Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
GLDN
arthrogryposis multiplex congenita
fetal akinesia deformation sequence
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
21 Jun 2022
21 Jun 2022
Historique:
received:
17
05
2022
revised:
15
06
2022
accepted:
20
06
2022
entrez:
9
7
2022
pubmed:
10
7
2022
medline:
10
7
2022
Statut:
epublish
Résumé
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the
Identifiants
pubmed: 35806855
pii: jcm11133570
doi: 10.3390/jcm11133570
pmc: PMC9267849
pii:
doi:
Types de publication
Case Reports
Langues
eng
Subventions
Organisme : Fundación Mutua Madrileña
ID : AP171442019
Organisme : AGAUR
ID : 2017SGR1134
Références
Prenat Diagn. 2013 Jan;33(1):61-74
pubmed: 23296716
JAMA. 2020 Jun 23;323(24):2503-2511
pubmed: 32573669
Am J Hum Genet. 2016 Oct 6;99(4):928-933
pubmed: 27616481
J Mol Diagn. 2019 Jan;21(1):38-48
pubmed: 30577886
Hum Mutat. 2017 Nov;38(11):1477-1484
pubmed: 28726266
Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1057-61
pubmed: 21157886
Prenat Diagn. 2020 Dec;40(12):1532-1539
pubmed: 32779773
Am J Med Genet A. 2020 Oct;182(10):2291-2296
pubmed: 32812332
Neuron. 2005 Jul 21;47(2):215-29
pubmed: 16039564
Fetal Diagn Ther. 2021;48(11-12):829-839
pubmed: 34775380
Eur J Hum Genet. 2021 Jan;29(1):141-153
pubmed: 32860008
J Med Genet. 2021 Sep;58(9):609-618
pubmed: 33060286
J Matern Fetal Neonatal Med. 2019 Feb;32(3):502-511
pubmed: 28954562
J Med Genet. 2022 Jun;59(6):559-567
pubmed: 33820833
J Biol Chem. 2007 Apr 6;282(14):10647-59
pubmed: 17293346
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):300-303
pubmed: 31271512
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):310-326
pubmed: 31369690
Hum Mutat. 2020 Feb;41(2):432-448
pubmed: 31680349
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Genet Med. 2020 Mar;22(3):511-523
pubmed: 31680123
J Cell Biol. 2007 May 7;177(3):551-62
pubmed: 17485493
Prenat Diagn. 2019 Aug;39(9):720-731
pubmed: 31218730
J Biol Chem. 2011 Dec 9;286(49):42426-42434
pubmed: 22009740