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Wambach, J.A.* ; Stettner, G.M.* ; Haack, T.B. ; Writzl, K.* ; Škofljanec, A.* ; Maver, A.* ; Munell, F.* ; Ossowski, S.* ; Bosio, M.* ; Wegner, D.J.* ; Shinawi, M.* ; Baldridge, D.* ; Alhaddad, B.* ; Strom, T.M. ; Grange, D.K.* ; Wilichowski, E.* ; Troxell, R.* ; Collins, J.E.* ; Warner, B.B.* ; Schmidt, R.E.* ; Pestronk, A.* ; Cole, F.S.* ; Steinfeld, R.*

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

Hum. Mutat. 38, 1477-1484 (2017)
DOI PMC Verlagsversion bestellen
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Wiley Periodicals, Inc. 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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Amc ; Arthrogryposis Multiplex Congenital ; Gldn ; Gliomedin; Functional Predictions; Sequencing Data; Arthrogryposis; Ranvier; Nodes; Variants; Database; Dbnsfp; Annotations; Framework
ISSN (print) / ISBN 1059-7794
e-ISSN 1098-1004
Zeitschrift Human Mutation
Quellenangaben Band: 38, Heft: 11, Seiten: 1477-1484 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Hoboken
Begutachtungsstatus