Expanding the phenotypic spectrum of L1CAM-associated disease
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2006.00607.x/fullpdf
Reference37 articles.
1. X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28;Fryns;J Med Genet,1991
2. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene;Jouet;Nat Genet,1994
3. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM;Vits;Nat Genet,1994
4. Mutations in the L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS;Ruiz;J Med Genet,1995
5. CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1;Fransen;Eur J Hum Genet,1995
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