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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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Détails bibliographiques
Auteurs principaux: VanderMeer, Julia E, Afzal, Muhammad, Alyas, Saadia, Haque, Sayedul, Ahituv, Nadav, Malik, Sajid
Format: Artigo
Langue:Inglês
Publié: 2012
Sujets:
Accès en ligne: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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