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[Spondylo-epiphyseal dysplasia. Description of a family].

作者信息

Bonora G, Manzoni D, Rogari P, Pizzi E, Andreoli A, Nedbal M

机构信息

Ospedale Predabissi, Divisione Pediatrica, Milano, Italia.

出版信息

Pediatr Med Chir. 1988 Jan-Feb;10(1):111-4.

PMID:3375124
Abstract

The authors describe a family, father and two sisters, suffering from spondylo-epiphyseal dysplasia. The disease is an autosomal dominant; genetic counseling depends on an exact diagnosis. The two sisters show some atypical features, which confirm the disease heterogeneity.

摘要

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