Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome

Published:2021-02 Issue:2 Volume:43 Page:337-342
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Hagiwara Hidetoshi,Matsumoto Hiroshi,Uematsu Kenji,Zaha Kiyotaka,Sekinaka Yujin,Miyake Noriko,Matsumoto Naomichi,Nonoyama Shigeaki

Funder

AMED, Japan

JSPS KAKENHI, Japan

Takeda Science Foundation, Japan

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. Congenital familial dwarfism with cephaloskeletal dysplasia;Taybi;Radiology,1967

2. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA;Edery;Science,2011

3. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I;Abdel-Salam;Am J Med Genet,2012

4. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene;Nagy;Clin Genet,2012

5. Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1;Krøigård;Clin Dysmorphol,2016

Cited by 7 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. B‐cell immune deficiency in twin sisters expands the phenotype of MOPDI;Clinical Genetics;2024-06-04

2. A TALS-likeRTTNmutation impedes neural rosette formation in human cortical organoids;2024-04-03

3. The Multifaceted Syndromic Primary Immunodeficiencies in Children;Journal of Clinical Medicine;2023-07-28

4. Variability of clinical manifestations in the child with Roifman syndrome;Russian Pediatric Journal;2023-06-27

5. Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish;Proceedings of the National Academy of Sciences;2023-02-21

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