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Article

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.

American journal of medical genetics. Part A - 1 Aug 2012

VanderMeer Julia E, Afzal Muhammad, Alyas Saadia, Haque Sayedul, Ahituv Nadav, Malik Sajid

Abstract excerpt

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 pre-axial polydactyly in multiple independent families. Here, we describe a large Balochi tribal family from Southern Punjab, Pakistan, with a variable set of limb malformations and a novel ZRS mutation. The family has a limb phenotype...

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Identifiers

PMID: 22786669
DOI: 10.1002/ajmg.a.35473
PMCID: PMC3402602

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Source receipt: pubmed, retrieved 7 Sept 2026.

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