A founder PPIL1 variant underlies a recognizable form of microlissencephaly with pontocerebellar hypoplasia.

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作者： Ghada M H,Abdel-Salam ^[1] ; Mohamed S,Abdel-Hamid ^[2]

作者单位： Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ^[1] Medical Molecular Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ^[2]

关键词 Dandy-Walker malformation PPIL1 agenesis of corpus callosum founder variant microcephaly microlissencephaly pontocerebellar hypoplasia

主题词人类(Humans);小头畸形(Microcephaly);小脑疾病(Cerebellar Diseases);脑疾病(Brain Diseases);丹迪-沃克综合征(Dandy-Walker Syndrome);肽基脯氨酰异构酶(Peptidylprolyl Isomerase)

DOI 10.1111/cge.14357

PMID 37190898

发布时间 2023-08-03

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