Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
J Med Genet. 1995 Mar;32(3):197-9.

A gene for familial venous malformations maps to chromosome 9p in a second large kindred.

Author information

  • 1Department of Genetics, Duke University Medical Center, Durham, NC 27710, USA.

Abstract

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing autosomal dominant inheritance of venous malformations. Using this family we confirm linkage of a familial form of venous malformations to chromosome 9p. We suggest that blue rubber bleb naevus syndrome can be considered a particular manifestation of this form of familial venous malformations. The candidate region for this gene encompasses the interferon gene cluster and the MTS1 (p16) tumour suppressor gene.

PMID:
7783168
[PubMed - indexed for MEDLINE]
PMCID:
PMC1050316
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire Icon for PubMed Central
    Loading ...
    Write to the Help Desk