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[Kniest's disease. Metatropic dwarfism (author's transl)].

作者信息

Delgado A, Egues J, Lozano J, Bernaola E

出版信息

An Esp Pediatr. 1976 Mar-Apr;9(2):199-204.

PMID:937873
Abstract

A new case of Kniest's Disease (bone dysplasia, retinal detachment and deafness), the first one in Spanish medical literature, is reported. Clinical and radiological considerations are made. Finally genetic theories of transmision and diagnosis of the disease are discussed.

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