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Title:

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

Document type:
Journal Article; 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
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:
doi:10.1002/humu.23297
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28726266
Print-ISSN:
1059-7794
TUM Institution:
Institut für Humangenetik
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