Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
作者： Tobias B. Haack , Penelope Hogarth , Michael C. Kruer , Allison Gregory , Thomas Wieland
DOI: 10.1016/J.AJHG.2012.10.019
关键词:
摘要: Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders characterized by abnormal iron deposition in the basal ganglia. We report that de novo mutations …
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