登录 注册 会员服务 联系我们

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

  • Published:2021-10-15 Issue:12 Volume:140 Page:1709-1731
  • ISSN:0340-6717
  • Container-title:Human Genetics
  • language:en
  • Short-container-title:Hum Genet

Author:

Whitman Mary C.ORCID,Barry Brenda J.ORCID,Robson Caroline D.ORCID,Facio Flavia M.ORCID,Van Ryzin Carol,Chan Wai-ManORCID,Lehky Tanya J.ORCID,Thurm AudreyORCID,Zalewski ChristopherORCID,King Kelly A.,Brewer Carmen,Almpani Konstantinia,Lee Janice S.,Delaney AngelaORCID,FitzGibbon Edmond J.ORCID,Lee Paul R.,Toro CamiloORCID,Paul Scott M.ORCID,Abdul-Rahman Omar A.,Webb Bryn D.,Jabs Ethylin WangORCID,Moller Hans Ulrik,Larsen Dorte Ancher,Antony Jayne H.,Troedson Christopher,Ma AlanORCID,Ragnhild GladORCID,Wirgenes Katrine V.ORCID,Tham EmmaORCID,Kvarnung Malin,Maarup Timothy JamesORCID,MacKinnon Sarah,Hunter David G.ORCID,Collins Francis S.ORCID,Manoli IriniORCID,Engle Elizabeth C.ORCID

Funder

National Eye Institute

National Institutes of Health

Moebius Syndrome Foundation

National Institute on Deafness and Other Communication Disorders

Region Stockholm ALF

Children's Hospital Ophthalmology Foundation

National Institute of Child Health and Human Development

Howard Hughes Medical Institute

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference42 articles.

1. Achenbach TM, Ruffle TM (2000) The Child Behavior Checklist and related forms for assessing behavioral/emotional problems and competencies. Pediatr Rev 21:265–271. https://doi.org/10.1542/pir.21-8-265

2. Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J (2014) The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Brain 137:1676–1700. https://doi.org/10.1093/brain/awu082

3. Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavo S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L, Italian Network on Central Hypogonadism (2018) Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH). Eur J Endocrinol 178:23–32. https://doi.org/10.1530/EJE-17-0065

4. Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, van Bakel H, Visel A, Williams TJ, Wysocka J, FaceBase C, Chai Y (2016) The FaceBase Consortium: a comprehensive resource for craniofacial researchers. Development 143:2677–2688. https://doi.org/10.1242/dev.135434

5. Burns TG, King TZ, Spencer KS (2013) Mullen scales of early learning: the utility in assessing children diagnosed with autism spectrum disorders, cerebral palsy, and epilepsy. Appl Neuropsychol Child 2:33–42. https://doi.org/10.1080/21622965.2012.682852

Cited by 11 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

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