User: Guest  Login
Document type:
journal article 
Author(s):
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 
Title:
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). 
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...    »
 
Journal title abbreviation:
Hum Mutat 
Year:
2017 
Journal volume:
38 
Journal issue:
11 
Pages contribution:
1477-1484 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
1059-7794 
TUM Institution:
Institut für Humangenetik