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Article

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

European journal of human genetics : EJHG - 1 Jun 2014

Wilson Gabrielle R, Sunley Jasmine, Smith Katherine R, Pope Kate, Bromhead Catherine J, Fitzpatrick Elizabeth, Di Rocco Maja, van Steensel Maurice, Coman David J, Leventer Richard J, Delatycki Martin B, Amor David J, Bahlo Melanie, Lockhart Paul J

Abstract excerpt

Borrone Dermato-Cardio-Skeletal (BDCS) syndrome is a severe progressive autosomal recessive disorder characterized by coarse facies, thick skin, acne conglobata, dysmorphic facies, vertebral abnormalities and mitral valve prolapse. We identified a consanguineous kindred with a child clinically diagnosed with BDCS. Linkage analysis of this family (BDCS1) identified five regions homozygous by descent with a maximum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24105366
DOI: 10.1038/ejhg.2013.229
PMCID: PMC4023207

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