Novel PHF6 mutation p.D333del causes Börjeson-Forssman-Lehmann syndrome.
作者信息
Baumstark A, Lower K M, Sinkus A, Andriuskeviciute I, Jurkeniene L, Gécz J, Just W
机构信息
Abt Humangenetik, Universität Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany.
出版信息
J Med Genet. 2003 Apr;40(4):e50. doi: 10.1136/jmg.40.4.e50.
Abstract
摘要
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