Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights

Published:2020-10-20 Issue:5 Volume:98 Page:445-456
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Abdel‐Hamid Mohamed S.¹^ORCID,Abdel‐Ghafar Sherif F.¹,Ismail Suzan R.²,Desouky Lubna M.²,Issa Mahmoud Y.³,Effat Laila K.¹,Zaki Maha S.³^ORCID

Affiliation:

1. Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

2. Human Genetics Department, Medical Research Institute Alexandria University Egypt

3. Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre Cairo Egypt

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13825

Reference25 articles.

1. Autosomal Recesssive Microcephaly, Microcornea, Congenital Cataract, Mental Retardation, Optic Atrophy, and Hypogenitalism

2. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

3. Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

4. Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

Cited by 12 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. Rab GTPases, Active Members in Antigen‐Presenting Cells, and T Lymphocytes;Traffic;2024-06

2. The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors;Neurobiology of Disease;2023-08

3. Exome sequencing identifies a novel pathogenic variant in RAB3GAP1 causing Warburg Micro syndrome in a Pakistani family;International Journal of Developmental Neuroscience;2023-04-25

4. Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome;Genes;2022-12-14

5. Natural history of spasticity in a case of a novel RAB3GAP2 mutation: Gait analysis with cortico-spinal tract imaging;Annals of Physical and Rehabilitation Medicine;2022-09

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