The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease)-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease)

Published:2008-08-13 Issue:10 Volume:53 Page:947-949
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Cho Tae-Joon,Moon Hyuk Ju,Cho Dae-Yeon,Park Moon Seok,Lee Dong Yeon,Yoo Won Joon,Chung Chin Youb,Choi In Ho

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg2008121.pdf

Reference11 articles.

1. Caffey J (1957) Infantile cortical hyperostosis; a review of the clinical and radiographic features. Proc R Soc Med 50:347–354

2. Emmery L, Timmermans J, Christens J, Fryns JP (1983) Familial infantile cortical hyperostosis. Eur J Pediatr 141:56–58

3. Frana L, Sekanina M (1976) Infantile cortical hyperostosis. Arch Dis Child 51:589–595

4. Gensure RC, Makitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Juppner H (2005) A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest 115:1250–1257

5. Gerrard JW, Holman GH, Gorman AA, Morrow IH (1961) Familial infantile cortical hyperostosis. J Pediatr 59:543–548

Cited by 18 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. Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen;Genetics in Medicine;2021-12

2. Microcomputed tomography and genetic analysis of a rare case of Caffey's disease in a 5–7‐month‐old girl;International Journal of Osteoarchaeology;2019-07-17

3. Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease);Pediatric Research;2019-07-09

4. Enfermedad de Caffey en una familia y expansión del espectro de trastornos relacionados con el colágeno tipo 1;Universitas Médica;2019-04-10

5. A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis;Yonsei Medical Journal;2019

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