Benutzer: Gast  Login
Mehr Felder
Einfache Suche
Titel:

Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).

Dokumenttyp:
Journal Article; Article
Autor(en):
Wambach, Jennifer A; Stettner, Georg M; Haack, Tobias B; Writzl, Karin; ?kofljanec, Andreja; Maver, Ale?; Munell, Francina; Ossowski, Stephan; Bosio, Mattia; Wegner, Daniel J; Shinawi, Marwan; Baldridge, Dustin; Alhaddad, Bader; Strom, Tim M; Grange, Dorothy K; Wilichowski, Ekkehard; Troxell, Robin; Collins, James; Warner, Barbara B; Schmidt, Robert E; Pestronk, Alan; Cole, F Sessions; Steinfeld, Robert
Abstract:
Biallelic GLDN mutations have recently been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report six infants and children from four unrelated families with biallelic GLDN mutations, four of whom survived beyond the neonatal period into infancy, childhood, and late adolescence with intensive care and chronic respiratory...     »
Zeitschriftentitel:
Hum Mutat
Jahr:
2017
Band / Volume:
38
Heft / Issue:
11
Seitenangaben Beitrag:
1477-1484
Sprache:
eng
Volltext / DOI:
doi:10.1002/humu.23297
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/28726266
Print-ISSN:
1059-7794
TUM Einrichtung:
Institut für Humangenetik
 BibTeX