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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.
PMID: 1870106 [PubMed - indexed for MEDLINE]
PMCID: PMC1016918
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Cited by 11 PubMed Central articles
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Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation.
Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, et al.
Am J Hum Genet. 2003 Dec; 73(6):1341-54. Epub 2003 Nov 18.
[Am J Hum Genet. 2003]
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A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS).
Du YZ, Dickerson C, Aylsworth AS, Schwartz CE.
J Med Genet. 1998 Jun; 35(6):456-62.
[J Med Genet. 1998]
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Genotype-phenotype correlation in L1 associated diseases.
Fransen E, Van Camp G, D'Hooge R, Vits L, Willems PJ.
J Med Genet. 1998 May; 35(5):399-404.
[J Med Genet. 1998]
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