当前位置: X-MOL 学术Mol. Genet. Genomic Med. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-09-01 , DOI: 10.1002/mgg3.1798
Sukun Luo 1 , Bo Bi 2 , Wenqian Zhang 3, 4, 5 , Rui Zhou 3, 4, 6 , Wei Chen 3, 4 , Peiwei Zhao 1 , Yufeng Huang 1 , Li Yuan 7 , Xuelian He 1
Affiliation  

Wiedemann–Steiner syndrome (WSS) is an autosomal dominant disorder characterized by short stature, hypertrichosis, intellectual disability, developmental delay, along with facial dysmorphism. WSS patients exhibit great phenotypic heterogeneities. Some variants in KMT2A (MLL) gene have been identified as the cause of WSS.

中文翻译:

在 Wiedemann-Steiner 综合征患者中通过全外显子组测序鉴定出 KMT2A (MLL) 中的三种从头变异

Wiedemann-Steiner 综合征 (WSS) 是一种常染色体显性遗传疾病,其特征是身材矮小、多毛症、智力障碍、发育迟缓以及面部畸形。WSS 患者表现出很大的表型异质性。KMT2A ( MLL ) 基因中的一些变体已被确定为 WSS 的原因。
更新日期:2021-11-10
down
wechat
bug