Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
作者信息
Drijvers J M, Lefeber D J, de Munnik S A, Pfundt R, van de Leeuw N, Marcelis C, Thiel C, Koerner C, Wevers R A, Morava E
出版信息
Clin Genet. 2010 May;77(5):507-9. doi: 10.1111/j.1399-0004.2009.01349.x.
Abstract
摘要
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