| Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features. | |
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MedLine Citation:
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PMID: 19282404 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital duplication of the palm is a rare syndrome with the following features: the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its gene analysis identifying the responsible gene mutation in exon 4 of the WNT7a gene, and detail the molecular basis of its clinical features. |
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Authors:
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M M Al-Qattan; M Al-Balwi; W Eyaid; I Al-Abdulkarim; S Al-Turki |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-03-12 |
Journal Detail:
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Title: The Journal of hand surgery, European volume Volume: 34 ISSN: 1532-2211 ISO Abbreviation: - Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-16 Completed Date: 2009-07-23 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101315820 Medline TA: J Hand Surg Eur Vol Country: England |
Other Details:
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Languages: eng Pagination: 247-51 Citation Subset: IM |
Affiliation:
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Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. moqattan@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Child, Preschool DNA Mutational Analysis Hand Deformities, Congenital / genetics* Humans Male Mutation Syndrome Ulna / abnormalities Wnt Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/WNT7A protein, human; 0/Wnt Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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