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[Dyggve-Melchior-Clausen syndrome].

作者信息

Beemer F A, Hennekam R C

出版信息

Tijdschr Kindergeneeskd. 1984 Jun;52(3):103-7.

PMID:6506057
Abstract

The Dyggve-Melchior-Clausen syndrome is a probably autosomal recessively inherited disorder characterized by mental retardation, dwarfism, and skeletal abnormalities especially of the spine, pelvis and hands. It is possibly caused by a disturbance in the protoglycan metabolism. Two Moroccan sibs with this syndrome are described, the first in Dutch literature.

摘要

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