Neuromuscular and Neuroendocrinological Features Associated With
Wieacker-Wolff syndrome
ZC4H2
arthrogryposis
case report
exome sequencing
neurodevelopmental disorders
neuromuscular junction
recurrent hypoglycemic events
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2021
2021
Historique:
received:
03
05
2021
accepted:
08
06
2021
entrez:
29
7
2021
pubmed:
30
7
2021
medline:
30
7
2021
Statut:
epublish
Résumé
Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in
Identifiants
pubmed: 34322088
doi: 10.3389/fneur.2021.704747
pmc: PMC8313121
doi:
Types de publication
Case Reports
Langues
eng
Pagination
704747Informations de copyright
Copyright © 2021 Piccolo, d'Annunzio, Amadori, Riva, Borgia, Tortora, Maghnie, Minetti, Gitto, Iacomino, Baldassari, Fiorillo, Zara, Striano and Salpietro.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Mol Cell Biol. 2020 Jun 11;12(5):337-344
pubmed: 31336385
Am J Hum Genet. 2019 Nov 7;105(5):1048-1056
pubmed: 31668703
Mov Disord. 2018 Mar;33(3):482-488
pubmed: 29392776
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):345-353
pubmed: 31410997
Am J Hum Genet. 2008 Jan;82(1):222-7
pubmed: 18179903
Am J Hum Genet. 2018 Nov 1;103(5):826
pubmed: 30388405
Hum Mutat. 2019 Dec;40(12):2270-2285
pubmed: 31206972
J Pediatr. 2013 May;162(5):1084
pubmed: 23452583
J Clin Invest. 2016 Feb;126(2):762-78
pubmed: 26752647
Neurology. 2017 Mar 14;88(11):1021-1028
pubmed: 28188302
J Med Genet. 2021 Apr 5;:
pubmed: 33820833
Brain Dev. 2018 Oct;40(9):760-767
pubmed: 29803542
J Bone Joint Surg Am. 2009 Jul;91 Suppl 4:40-6
pubmed: 19571066
Am J Hum Genet. 2013 May 2;92(5):681-95
pubmed: 23623388
Eur J Pediatr. 2015 Apr;174(4):557-63
pubmed: 25287621
Ann Neurol. 2019 Aug;86(2):225-240
pubmed: 31187503
Development. 2020 Mar 30;147(6):
pubmed: 32094113
Mol Genet Genomic Med. 2020 Oct;8(10):e1440
pubmed: 32767732
Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1057-61
pubmed: 21157886
Mol Genet Genomic Med. 2020 Feb;8(2):e1100
pubmed: 31885220
Am J Med Sci. 2013 Sep;346(3):194-8
pubmed: 23187300
Neurology. 2016 May 10;86(19):1794-800
pubmed: 27029630
Development. 2018 Sep 3;145(17):
pubmed: 30177510
Brain. 2018 Mar 1;141(3):651-661
pubmed: 29390050
Am J Med Genet A. 2018 Jan;176(1):167-170
pubmed: 29150902
Eur J Med Genet. 2014 Aug;57(8):464-72
pubmed: 24704792
Am J Physiol. 1997 Mar;272(3 Pt 1):E476-84
pubmed: 9124555
Hum Mutat. 2018 Feb;39(2):187-192
pubmed: 29127725
Am J Med Genet A. 2017 May;173(5):1358-1363
pubmed: 28345801
Cells. 2020 Jul 01;9(7):
pubmed: 32630355
J Med Genet. 2020 Sep 14;:
pubmed: 32928894
Open Biol. 2017 Aug;7(8):
pubmed: 28814648
Hum Mol Genet. 2015 Sep 1;24(17):4848-61
pubmed: 26056227