A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201754.pdf
Reference10 articles.
1. Moore KL, Persaud TVN, Torchia MG (eds). The developing human: Clinically oriented embryology. Elsevier Health Sciences: Philadelphia: USA, 2015.
2. Percin EF, Percin S, Egilmez H, Sezgin I, Ozbas F, Akarsu AN . Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I. J Med Genet 1998; 35: 868–874.
3. Malik S, Arshad M, Amin-ud-Din M, Oeffner F, Dempfle A, Haque S et al. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Am J Med Genet A 2004; 126A: 61–67.
4. Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC et al. Mutations affecting the BHLHA9 DNA-binding domain causes MSSD, mesoaxial synostoticsyndactyly with phalangeal reduction, Malik-Percin type. Am J Hum Genet 2014; 95: 649–659.
5. Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R et al. Duplication of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 2012; 49: 119–125.
Cited by 10 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. Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis;Orphanet Journal of Rare Diseases;2022-05-12
2. Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives;Genes;2022-04-27
3. Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly;Congenital Anomalies;2021-08-08
4. Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families;Developmental Dynamics;2021-03-30
5. First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction;American Journal of Medical Genetics Part A;2020-01-07
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