期刊
AUSTRALASIAN JOURNAL OF DERMATOLOGY
卷 52, 期 3, 页码 224-226出版社
WILEY-BLACKWELL
DOI: 10.1111/j.1440-0960.2011.00788.x
关键词
ectodermal dysplasia; Wnt signalling
类别
资金
- Department of Health via UK National Institute for Health Research (NIHR) Comprehensive Biomedical Research Centre
- King's College London
- King's College Hospital NHS Foundation Trust
Schopf-Schulz-Passarge syndrome (SSPS; MIM224750) is a rare autosomal recessive form of ectodermal dysplasia that was recently shown to result from mutations in the WNT10A gene. We now report a 59-year-old woman with SSPS in whom a homozygous nonsense mutation (p.Cys107X) in WNT10A was detected. Mutations in this gene may also underlie odonto-onycho-dermal dysplasia and other ectodermal dysplasia syndromes. To date, 16 different WNT10A mutations have been reported, although considerable clinical and molecular overlap exists. This report demonstrates the molecular basis of a further case of SSPS and highlights the clinical features of this unusual ectodermal dysplasia syndrome.
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