Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel compound heterozygous variants in the STIL gene identified in a Chinese family with presentation of foetal microcephaly

Published:2020-12 Issue:12 Volume:63 Page:104091
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Cheng Chen,Yang Ying,Zhu Xia,Yu Xudong,Zhang Tongda,Yang Fan,Chen Fang,Chen Xinlin,Zhao Sheng,Guo Jian

Funder

Science, Technology and Innovation Commission of Shenzhen Municipality

Department of Science and Technology of Guangdong Province

Hubei Province Natural Science Foundation

Hubei Province Health and Family Planning Scientific Research

Hubei Province Health Commission Key Program

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference16 articles.

1. A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the STIL gene found postnatally with exome analysis;Bennett;Pediatr. Neurol.,2014

2. Novel STIL compound heterozygous mutations cause severe fetal microcephaly and centriolar lengthening;Cristofoli;Mol. Syndromol.,2017

3. Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach;Dong;Genet. Med.,2016

4. A reference human genome dataset of the BGISEQ-500 sequencer;Huang;GigaScience,2017

5. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly;Kakar;Hum. Genet.,2015

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain;Frontiers in Cell and Developmental Biology;2022-01-17

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3