Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
作者信息
Borozdin W, Wright M J, Hennekam R C M, Hannibal M C, Crow Y J, Neumann T E, Kohlhase J
出版信息
J Med Genet. 2004 Aug;41(8):e102. doi: 10.1136/jmg.2004.019505.
Abstract
摘要
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Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum.
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