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Achondroplasia in sibs of normal parents
N Philip1, M Auger, J F Mattei
1Centre de Génétique Médicale et INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.
Journal of Medical Genetics
|December 1, 1988
Abstract:
A new case of recurrent achondroplasia in sibs of normal parents is reported. Two sisters and a half sister were affected. Various mechanisms can be postulated to account for unexpected recurrence of achondroplasia in the same sibship. Germinal mosaicism and unstable premutation are discussed here.