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Logo of jmedgeneJournal of Medical GeneticsCurrent TOCInstructions for authors
J Med Genet. Dec 1988; 25(12): 857–859.
PMCID: PMC1051619
Achondroplasia in sibs of normal parents.
N Philip, M Auger, J F Mattei, and F Giraud
Centre de Génétique Médicale et INSERM U242, Hôpital d'Enfants de la Timone, Marseille, France.
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.
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