Article
Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2004
Stoll C, Pauly F, Steib J P
Abstract excerpt
Long term follow-up of two sibs with an autosomal recessive form of chrondrodysplasia punctata and epilepsy: A variety of osteodysplasias are referred to with the term chondrodysplasia punctata (CDP). Here we report on two sibs, a boy and a girl, with probable autosomal recessive form of CDP and epilepsy followed-up for 30 and 19 years, respectively. Family history was unremarkable but for consanguinity....
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