Article
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.
Human mutation - 1 Jan 2010
Wieczorek Dagmar, Pawlik Barbara, Li Yun, Akarsu Nurten A, Caliebe Almuth, May Klaus J W, Schweiger Bernd, Vargas Fernando R, Balci Sevim, Gillessen-Kaesbach Gabriele, Wollnik Bernd
Abstract excerpt
Werner mesomelic syndrome (WMS) is an autosomal dominant disorder with unknown molecular etiology characterized by hypo- or aplasia of the tibiae in addition to the preaxial polydactyly (PPD) of the hands and feet and/or five-fingered hand with absence of thumbs. We show that point mutations of a...
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