| Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. | |
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MedLine Citation:
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PMID: 21834823 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Schöpf-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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Authors:
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Gabriela Petrof; Kenneth Fong; Joey E Lai-Cheong; Sarah E Cockayne; John A McGrath |
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Publication Detail:
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Type: Journal Article Date: 2011-06-29 |
Journal Detail:
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Title: The Australasian journal of dermatology Volume: 52 ISSN: 1440-0960 ISO Abbreviation: Australas. J. Dermatol. Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-08-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0135232 Medline TA: Australas J Dermatol Country: Australia |
Other Details:
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Languages: eng Pagination: 224-6 Citation Subset: IM |
Copyright Information:
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© 2011 The Authors; Australasian Journal of Dermatology © 2011 The Australasian College of Dermatologists. |
Affiliation:
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St John's Institute of Dermatology, King's College London, London Rupert Hallam Department of Dermatology, Royal Hallamshire Hospital, Sheffield, UK. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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