Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth

Published:1994-04 Issue:2 Volume:3 Page:115???120
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:Clinical Dysmorphology

Author:

CLAYTON-SMITH J.,KRAJEWSKA-WALASEK M.,FRYER A.,DONNAI D.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Cited by 15 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. An 8.4‐Mb 3q26.33‐3q28 microdeletion in a patient with blepharophimosis–intellectual disability syndrome and a review of the literature;Clinical Case Reports;2016-07-22

2. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome;American Journal of Medical Genetics Part A;2013-02-22

3. Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome;The American Journal of Human Genetics;2011-11

4. The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings;American Journal of Medical Genetics Part A;2011-02-22

5. A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome;Clinical Genetics;2008-09-16

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