Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome

A novel fibrotic syndrome was recently reported in a South African family, characterised by poikiloderma, tendon contracture and progressive pulmonary fibrosis. The pathological hallmark of this autosomal dominant condition is abnormal fibrosis of the skin, tendons and viscera, with variable penetrance. A candidate gene approach was adopted to investigate the molecular basis of this disease.

Grantor dc:publisher.institution

Division of Human Genetics

Year dc:date.issued

2009

Author dc:creator

• Watson, Lauren

Advisor dc:contributor.advisor

• Mayosi, B M

Language dc:language.iso

eng

Handle dc:identifier.uri

http://hdl.handle.net/11427/3107

OAI identifier oai:identifier

oai:open.uct.ac.za:11427/3107