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Article

Digitotalar dysmorphism: Molecular elucidation.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde - 2 Feb 2016

Vorster Anna Alvera, Beighton Peter, Ramesar Rajkumar Sewcharan

Abstract excerpt

Dominantly inherited digitotalar dysmorphism (DTD), which is characterised by flexion contractures of digits and 'rocker-bottom' feet due to a vertical talus, was first described in a South African family of European stock in 1972. We review the clinical manifestations and document the molecular basis for DTD in this prototype family. This family was restudied in 1995 and 2006 and biological specimens were...

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Source

Identifiers

PMID: 26915936
DOI: 10.7196/SAMJ.2016.v106i3.10134

Genes

TNNT3

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