Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2

Published:2013-10-29 Issue:2 Volume:164 Page:484-489
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Aslanger Ayca D.¹,Altunoglu Umut²,Aslanger Emre³,Satkın Bilge N.²,Uyguner Zehra Oya²,Kayserili Hülya²

Affiliation:

1. Medical Genetics Unit; Kocaeli Derince Research and Education Hospital; Kocaeli Turkey

2. Medical Genetics Department; Istanbul Medical Faculty; Istanbul University; Istanbul Turkey

3. Cardiology Unit; Kocaeli Gölcük State Hospital; Kocaeli Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36277/fullpdf

Reference12 articles.

1. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking;Albrecht;Am J Med Genet Part A,2010

2. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome;Basel-Vanagaite;Am J Hum Genet,2009

3. Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC;Fujimoto;Am J Med Genet,1997

4. Genetic causes of bronchiectasis;Gould;Clin Chest Med,2012

5. Costello syndrome: An overview;Hennekam;Am J Med Genet Part C,2003

Cited by 13 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. Nontuberculous Mycobacteria, Mucociliary Clearance, and Bronchiectasis;Microorganisms;2024-03-27

2. Benign Megalencephaly;Journal of Primary Care Dentistry and Oral Health;2022

3. Benign Megalencephaly;D Y Patil Journal of Health Sciences;2021-04

4. Malformations of Cortical Development;Pediatric Neuroradiology;2021

5. RIN2 and BBS7 variants as cause of a coincidental syndrome;European Journal of Medical Genetics;2020-03

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