Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,General Medicine
Link
https://link.springer.com/content/pdf/10.1007/s12031-021-01873-z.pdf
Reference16 articles.
1. Acevedo AC, Poulter JA, Alves PG, de Lima CL, Castro LC, Yamaguti PM, Paula LM, Parry DA, Logan CV, Smith CEL, Johnson CA, Inglehearn CF, Mighell AJ (2015) Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations. BMC Med Genet 16(1):8. https://doi.org/10.1186/s12881-015-0154-5
2. Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O’Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A (2016) Non lethal Raine syndrome and differential diagnosis. Eur J Med Genet 59(11):577–583. https://doi.org/10.1016/j.ejmg.2016.09.018
3. Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014) Raine syndrome: an overview. Eur J Med Genet 57(9):536–542. https://doi.org/10.1016/j.ejmg.2014.07.001
4. Hung CY, Rodriguez M, Roberts A, Bauer M, Mihalek I, Bodamer O (2019) A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. Am J Med Genet A 179(9):1866–1871. https://doi.org/10.1002/ajmg.a.61291
5. Ishikawa HO, Xu A, Ogura E, Manning G, Irvine KD (2012) The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins. PLoS One 7(8):e42988. https://doi.org/10.1371/journal.pone.0042988
Cited by 4 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. Raine’s syndrome: rare disease from neurosurgical perspective;Child's Nervous System;2023-10-11
2. The odontoblastic differentiation of dental mesenchymal stem cells: molecular regulation mechanism and related genetic syndromes;Frontiers in Cell and Developmental Biology;2023-09-25
3. Mutations of family with sequence similarity 20‐member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets;Journal of Cellular Physiology;2023-09-12
4. Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications;Frontiers in Molecular Biosciences;2021-12-20
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