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单词 Conradi-Hunermann Syndrome
释义

Conradi-Hunermann Syndrome


《英文msh词典》Conradi-Hunermann Syndrome
[同义词] Conradi-Hunermann Syndrome
[主题词] Chondrodysplasia Punctata
[中文释义] Conradi-Hunermann综合征
[英文释义] A heterogeneous group of bone dysplasias,the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA,RHIZOMELIC),an autosomal dominant form (Conradi-Hunermann syndrome),and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
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