Literature DB >> 30513139

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia.

Joshi Stephen1, Sheela Nampoothiri2, Srikar Kuppa3, Dhanya Yesodharan2, Natasha Radhakrishnan4, William A Gahl1,3,5, May Christine V Malicdan1,3,5.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2018        PMID： 30513139     DOI： 10.1002/ajmg.a.40658

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  2 in total

1.  Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia.

Authors:  Sepideh Gholami Yarahmadi; Fatemeh Sarlaki; Saeid Morovvati
Journal:  Clin Case Rep       Date:  2022-03-08

2.  Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.

Authors:  Youfeng Zhou; Ke Xu; Weiyue Gu; Yan Huang
Journal:  Mol Genet Genomic Med       Date:  2022-04-09       Impact factor: 2.473
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.