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J Med Genet. Mar 1995; 32(3): 197–199.
PMCID: PMC1050316
A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
C J Gallione, K A Pasyk, L M Boon, F Lennon, D W Johnson, E A Helmbold, D S Markel, M Vikkula, J B Mulliken, M L Warman
, et al.
Department 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.
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