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X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

✍ Scribed by S.W. Knight; N.S. Heiss; T.J. Vulliamy; S. Greschner; G. Stavrides; G.S. Pai; G. Lestringant; N. Varma; P.J. Mason; I. Dokal; A. Poustka


Book ID
117852879
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
207 KB
Volume
65
Category
Article
ISSN
0002-9297

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Communicated by Mark H. Paalman L1 disease is a clinically heterogeneous X-chromosomal neurodevelopmental disorder that is frequently associated with mental retardation and congenital hydrocephalus in males. It is caused by mutations in L1CAM that encodes a multifunctional transmembrane neuronal cel