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A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

โœ Scribed by Mohammad M. Al-Qattan; Ibrahim Al Abdulkareem; Yazied Al Haidan; Mohammed Al Balwi


Book ID
115549411
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
343 KB
Volume
158A
Category
Article
ISSN
1552-4825

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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 spe