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单词 Rhizomelic chondrodysplasia punctata
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Rhizomelic chondrodysplasia punctata

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Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. The affected individuals have low levels of plasmalogens.

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更新时间:2025/6/22 22:08:16