Mowat-Wilson Syndrome as a Differential Diagnosis in Patients with Congenital Heart Defects and Dysmorphic Facies.
ZEB2
genetic disorder
multiple congenital disorder
neurodevelopmental disorder
Journal
Pharmacogenomics and personalized medicine
ISSN: 1178-7066
Titre abrégé: Pharmgenomics Pers Med
Pays: New Zealand
ID NLM: 101514107
Informations de publication
Date de publication:
2022
2022
Historique:
received:
02
07
2022
accepted:
22
09
2022
entrez:
8
11
2022
pubmed:
9
11
2022
medline:
9
11
2022
Statut:
epublish
Résumé
Mowat-Wilson syndrome is a rare, autosomal dominant neurodevelopmental disorder characterized by distinctive facial gestalt and intellectual disability that is often associated with microcephaly, seizures and multiple congenital anomalies, mainly heart defects. More than 350 patients and 180 genetic variants in the
Identifiants
pubmed: 36345475
doi: 10.2147/PGPM.S380908
pii: 380908
pmc: PMC9636884
doi:
Types de publication
Case Reports
Langues
eng
Pagination
913-918Informations de copyright
© 2022 Pachajoa et al.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest in this work.
Références
Orphanet J Rare Dis. 2014 Jan 08;9:2
pubmed: 24401652
Genes (Basel). 2021 Jun 27;12(7):
pubmed: 34199024
Genet Med. 2018 Sep;20(9):965-975
pubmed: 29300384
Genet Med. 2017 Jun;19(6):691-700
pubmed: 27831545
Hum Mol Genet. 2013 Jul 1;22(13):2652-61
pubmed: 23466526
Eur J Med Genet. 2005 Apr-Jun;48(2):97-111
pubmed: 16053902
Genet Med. 2017 Jun;19(6):715-718
pubmed: 27763634
Am J Med Genet A. 2012 Feb;158A(2):358-66
pubmed: 22246645
Am J Med Genet A. 2008 Dec 1;146A(23):3095-9
pubmed: 19006215
Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):1042-1051
pubmed: 33300679
Brain Res. 2019 Feb 15;1705:24-31
pubmed: 30266271
Orphanet J Rare Dis. 2020 Jun 15;15(1):151
pubmed: 32539836
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Cardiol Young. 2018 Aug;28(8):1074-1076
pubmed: 29954473
J Child Neurol. 2016 Jun;31(7):913-7
pubmed: 26809768
Neurol India. 2013 May-Jun;61(3):306-7
pubmed: 23860154
Am J Med Genet A. 2009 Mar;149A(3):417-26
pubmed: 19215041
Am J Med Genet A. 2014 Aug;164A(8):1899-908
pubmed: 24715670