Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome

Watson, Lauren

Elucidating the molecular basis of a novel autosomal dominant fibrotic syndrome

Master Thesis

2009

Publisher

University of Cape Town

Department

Division of Human Genetics

Faculty

Faculty of Health Sciences

Abstract

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.

Description

Includes abstract.

Includes bibliographical references (leaves 97-103).

Keywords

Medicine

Reference:

Collections

Masters

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