X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

Hum Mol Genet

Department of Medical Genetics, University of Antwerp-UIA, Belgium.

Published: December 1994

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http://dx.doi.org/10.1093/hmg/3.12.2255	DOI Listing

Publication Analysis

x-linked hydrocephalus

hydrocephalus masa

masa syndrome

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family single

single missense

missense mutation

mutation exon

exon l1cam

l1cam gene

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