MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
作者信息
Schrander-Stumpel C, Fryns J, Cassiman J J, Legius E, Spaepen A, Höweler C J
出版信息
J Med Genet. 1992 Mar;29(3):215. doi: 10.1136/jmg.29.3.215-a.
Abstract
摘要
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MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.
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