Concepedia

Absent tibiae—polydactyly—triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?

Fernando Regla Vargas, Ricardo Lopes Pontes, Juan Clinton Llerena, José Carlos Cabral de Almeida

American Journal of Medical Genetics · 1995 · 24 citations · 14 references

DOI

Concepts

Abstract

We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed.

References

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