[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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