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Article

ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.

Journal of human genetics - 1 Aug 2014

Norbnop Phatchara, Srichomthong Chalurmpon, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Werner mesomelic syndrome (WMS), an autosomal dominant disorder characterized by hypoplastic tibiae, triphalangeal thumbs and polydactyly, is caused by a specific point mutation at the position 404 in zone of polarizing activity regulatory sequence (ZRS). Here we identified two additional families with WMS. All three patients in three generations of Family 1 were found to harbor the same heterozygous 406A>G...

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Identifiers

PMID: 24965254
DOI: 10.1038/jhg.2014.50

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ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers.PMID 24965254Read ↗

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