| Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. | |
MedLine Citation:
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PMID: 16906569 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (PTCH) gene. The PTCH protein is a negative regulator of Hedgehog signaling, and the Sonic Hedgehog (SHH)-PTCH pathway is known to play an important role in the formation and cycling of the hair follicle. We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise. |
Authors:
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Louise C Wilson; Ekundayo Ajayi-Obe; Birgitta Bernhard; Saskia M Maas |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 140 ISSN: 1552-4825 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2006 Dec |
Date Detail:
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Created Date: 2006-11-27 Completed Date: 2007-02-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2625-30 Citation Subset: IM |
Affiliation:
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Clinical & Molecular Genetics Unit, Institute of Child Health & Great Ormond Street Hospital, London, UK. WilsoL@gosh.nhs.uk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Basal Cell Nevus Syndrome
/
genetics,
pathology* Child, Preschool Female Hair / growth & development* Hair Follicle / growth & development Humans Hypertrichosis / genetics, pathology Infant Male Models, Biological Mutation* Receptors, Cell Surface / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Cell Surface; 0/patched receptors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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