一种与无小脑萎缩及其他中枢神经系统结构异常的精神运动发育迟缓综合征相关的WDR73基因新型复合杂合基因型。
A Novel Compound Heterozygous Genotype of the WDR73 Gene Associated With a Psychomotor Retardation Syndrome Without Cerebellar Atrophy and Other CNS Structural Abnormalities.
作者信息
Nogueira Enrique, Del Olmo Beatriz, Babín Lara, Vizuete Génesis, Lobo Concepción, González Cecilia
机构信息
Clinical Genetics, University Hospital La Zarzuela, Madrid, Spain.
Clinical Genetics, University Hospital San Rafael, Madrid, Spain.
出版信息
Clin Genet. 2025 Feb;107(2):237-239. doi: 10.1111/cge.14645. Epub 2024 Nov 12.
PMID:39532686
Abstract
A novel compound heterozygous genotype of the WDR73 gene associated with a psychomotor retardation syndrome without cerebellar atrophy and other CNS structural abnormalities.
摘要
一种与无小脑萎缩及其他中枢神经系统结构异常的精神运动发育迟缓综合征相关的WDR73基因新型复合杂合基因型。
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