一例源于 HNRNPK 新型错义变异的非典型卡布克综合征。
A case of atypical Kabuki syndrome arising from a novel missense variant in HNRNPK.
机构信息
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Department of Pediatrics, Central Hospital, Aichi Human Service Center, Kasugai, Japan.
出版信息
Clin Genet. 2017 Nov;92(5):554-555. doi: 10.1111/cge.13023. Epub 2017 Aug 3.
PMID:28771707
Abstract
A novel causative variant (c. 464T>C, p.Leu155Pro) in the heterogeneous nuclear ribonucleoprotein K (HNRNPK) gene.
摘要
一种新型的异质核核糖核蛋白 K（HNRNPK）基因致病变异体（c.464T>C，p.Leu155Pro）。
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