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Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick
F R Vargas1, R L Pontes, J C Llerena Júnior
1Centro de Genetica Medica, IFF, Fiocruz, Rio de Janeiro, Brazil.
American Journal of Medical Genetics
|January 30, 1995
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.