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  • Title: Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.
    Author: Al-Qattan MM, Al-Balwi M, Eyaid W, Al-Abdulkarim I, Al-Turki S.
    Journal: J Hand Surg Eur Vol; 2009 Apr; 34(2):247-51. PubMed ID: 19282404.
    Abstract:
    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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