A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.
作者
Jeong Ho Ahn,Seung Hwan Oh,Ji Kyoung Park,Kwang Hoon Kim,Jeong Eun Lee,Woo Yeong Chung,Keun Soo Lee,Go Hun Seo,Bo Lyun Lee
出处
期刊：PubMed [National Institutes of Health] 日期：2022-05-01卷期号：52 (3): 488-493
pathogenic variants in patients with global developmental delay, progressive microcephaly, and pontocerebellar hypoplasia and the genotype-phenotype relationships.
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(2025-6-4)
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