@article{6770ef04a33f4a06accbb611c7a9fc6c,
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 and nutritional support. Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period.",
keywords = "AMC, GLDN, arthrogryposis multiplex congenital, gliomedin",
author = "Wambach, {Jennifer A.} and Stettner, {Georg M.} and Haack, {Tobias B.} and Karin Writzl and Andreja {\v S}kofljanec and Ale{\v s} Maver and Francina Munell and Stephan Ossowski and Mattia Bosio and Wegner, {Daniel J.} and Marwan Shinawi and Dustin Baldridge and Bader Alhaddad and Strom, {Tim M.} and Grange, {Dorothy K.} and Ekkehard Wilichowski and Robin Troxell and James Collins and Warner, {Barbara B.} and Schmidt, {Robert E.} and Alan Pestronk and Cole, {F. Sessions} and Robert Steinfeld",
note = "Funding Information: National Institutes of Health (K08 HL105891, K12 HL120002, R21/33 HL 120760); the Children{\textquoteright}s Discovery Institute; theGerman Federal Ministry of Education and Research (BMBF) within the framework of the e:Med research and funding concept (grant #FKZ 01ZX1405C); the Spanish Ministry of Economy and Competitiveness; {\textquoteleft}Centro de Excelencia Severo Ochoa 2013–2017{\textquoteright} (SEV-2012-0208); the CERCA Programme/Generalitat de Catalunya and the “la Caixa” Foundation. Publisher Copyright: {\textcopyright} 2017 Wiley Periodicals, Inc.",
year = "2017",
month = nov,
doi = "10.1002/humu.23297",
language = "English",
volume = "38",
pages = "1477--1484",
journal = "Human mutation",
issn = "1059-7794",
number = "11",
}