A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene,Molecular Genetics & Genomic Medicine

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.)

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-12-23 , DOI: 10.1002/mgg3.1582
Li Tan ₁ , Ying Li ₂ , Fan Liu ₂ , Yufeng Huang ₁ , Sukun Luo ₁ , Peiwei Zhao ₁ , Weiyue Gu ₃ , Jun Lin ₄ , Aifen Zhou ₅ , Xuelian He ₁

Affiliation

Gabriele‐de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild‐to‐profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of functional and morphologic abnormalities, and intrauterine growth restriction or low birth weight and feeding difficulties are common in the patients. However, NDDs, such as language development disorder and ID, could hardly be assessed in patients younger than 2 years old.

更新日期：2020-12-23

点击分享查看原文

点击收藏

公开下载

阅读更多本刊最新论文本刊介绍/投稿指南11