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pro vyhledávání: '"Virginie Siani"'
Autor:
Alberti Em, Isabelle Coupry, Anne Lise Delezoide, Brigitte Gilbert-Dussardier, Benoit Arveiler, Jacques Battin, Dominique Carles, Robert Saura, Didier Lacombe, Nicolas Chassaing, Jean-François Chateil, Virginie Siani
Publikováno v:
American Journal of Medical Genetics Part A. :307-312
We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to terminatio