Spondylo-epi-metaphyseal dysplasia (SEMD) matrilin 3 type: homozygote matrilin 3 mutation in a novel form of SEMD.
作者信息
Borochowitz Z U, Scheffer D, Adir V, Dagoneau N, Munnich A, Cormier-Daire V
出版信息
J Med Genet. 2004 May;41(5):366-72. doi: 10.1136/jmg.2003.013342.
Abstract
摘要
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