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[Onycho-osteo-dysplasia (in connection with two familial observations) (author's transl)].

作者信息

Rotteleur G, Duez-Desmaret C, Farriaux J P, Fontaine G

出版信息

J Genet Hum. 1978 Dec;26(4):393-404.

PMID:752069
Abstract

The authors report on two familial observations of hereditary onycho-osteo-dysplasia and review the principal characteristics of this syndrome. Only one of the three reported cases presented the classical dysplastic tetrad. The other two suffered only from three associated anomalies (absence of elbow dysplasia). No renal involvement was observed. Dominant autosomal transmission was confirmed, in addition to a linkage with ABO blood groups. Finally, the authors emphasise the identity of phenotypic expression found in the cases studied.

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