Format

Send to

Choose Destination
Jpn J Hum Genet. 1996 Dec;41(4):431-7.

A novel mutation in L1CAM gene in a Japanese patient with X-linked hydrocephalus.

Author information

1
Department of Planning and Research, Osaka Medical Center, Japan.

Abstract

L1CAM is a member of the immunoglobulin gene superfamily of neural adhesion molecule. Abnormality of the L1CAM gene is associated with X-linked recessive form of congenital hydrocephalus (HSAS; hydrocephalus due to congenital stenosis of aqueduct of Sylvius) and some allelic disorders. Four new patients with congenital hydrocephalus consistent with the X-linked type were described. One of them had a novel mutation in the L1CAM gene.

PMID:
9088116
DOI:
10.1007/BF01876336
[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center