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PMID: 7881431 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Human molecular genetics ·Vol. 3 ·No. 12 ·1994-12-00 ·Pages 2255-6

Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ

Abstract

暂无摘要

Related Genes

L1CAM

MeSH Terms

Abnormalities, Multiple/genetics Aphasia/genetics Base Sequence Cerebral Aqueduct/abnormalities Female Gait/genetics Humans Hydrocephalus/genetics Intellectual Disability/genetics Male Molecular Sequence Data Pedigree Point Mutation/genetics Polymorphism, Genetic Sex Chromosome Aberrations/genetics Syndrome Thumb/abnormalities X Chromosome/genetics

Authors & Affiliations

6 authors, click to expand affiliations / ORCID

Fransen E

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

Schrander-Stumpel C

Vits L

Coucke P

Van Camp G

Willems P J

Article Info

Journal

Human molecular genetics

Abbr.

Hum Mol Genet

ISSN

0964-6906

DOI

10.1093/hmg/3.12.2255

Published

1994-12-00

Pages

2255-6

Language

English

Region

England

NLM ID

9208958

Subset

External Links

PubMed source DOI: 10.1093/hmg/3.12.2255 View journal details

Analysis Services

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

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