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A Novel ZRS Mutation in a Balochi Tribal Family with Triphalangeal Thumb, Pre-axial Polydactyly, Postaxial Polydactyly and Syndactyly

Limb malformations are one of the most common types of human congenital malformations. Mutations in the ZRS enhancer of Sonic Hedgehog are thought to be responsible for preaxial polydactyly in multiple independent families. Here, we describe a large Balochi tribal family from Southern Punjab, Pakist...

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Hlavní autoři: VanderMeer, Julia E, Afzal, Muhammad, Alyas, Saadia, Haque, Sayedul, Ahituv, Nadav, Malik, Sajid
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3402602/
https://ncbi.nlm.nih.gov/pubmed/22786669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35473
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