Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Global retardation and hereditary spherocytosis associated with a novel deletion of chromosome 8p11.21 encompassing KAT6A and ANK1

Published:2020-12 Issue:12 Volume:63 Page:104082
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wang Dayan,Lai Panjian

Funder

Medicine & Health Technology Innovation Project of Zhejiang Province

young and middle-aged scientific research foundation of Jinhua Central Hospital

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference22 articles.

1. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay;Arboleda;Am. J. Hum. Genet.,2015

2. The MYST family of histone acetyltransferases and their intimate links to cancer;Avvakumov;Oncogene,2007

3. The translocation t(8;16)(p11;p13) of acute myeloid leukaemia fuses a putative acetyltransferase to the CREB-binding protein;Borrow;Nat. Genet.,1996

4. New case of contiguous gene syndrome at chromosome 8p11.2p12[J];Cau;Am. J. Med. Genet.,2005

5. Association of red cell spherocytosis with deletion of the short arm of chromosome 8;Chilcote;Blood,1987

Cited by 5 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. Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1;Reproductive Biology and Endocrinology;2023-03-01

2. Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis;Frontiers in Physiology;2022-08-12

3. Novel SPTB frameshift mutation in a Chinese neonatal case of hereditary spherocytosis type 2: A case report;Experimental and Therapeutic Medicine;2022-07-28

4. Early-Onset Diabetes Mellitus in Chromosome 8p11.2 Deletion Syndrome Combined With Becker Muscular Dystrophy - A Case Report;Frontiers in Endocrinology;2022-07-25

5. Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism;The Journal of Clinical Endocrinology & Metabolism;2022-05-16

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