Literature DB >> 15264296

A novel NOG mutation Pro37Arg in a family with tarsal and carpal synostoses.

P Debeer, J-P Fryns, K Devriendt, E Baten, C Huysmans, W J M Van de Ven.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2004        PMID: 15264296     DOI: 10.1002/ajmg.a.30152

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


× No keyword cloud information.
  4 in total

1.  Tarsal-carpal coalition syndrome: importance of early diagnosis.

Authors:  Gloria Tze Yan Lau; Gayatri Athalye-Jape; Natasha Amery
Journal:  BMJ Case Rep       Date:  2019-06-06

2.  Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Authors:  S Usami; S Abe; S Nishio; Y Sakurai; H Kojima; T Tono; N Suzuki
Journal:  Clin Genet       Date:  2012-01-30       Impact factor: 4.438

3.  Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

Authors:  Rong Yu; Hongqun Jiang; Huihuang Liao; Wugen Luo
Journal:  BMC Med Genomics       Date:  2020-12-11       Impact factor: 3.063

4.  A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

Authors:  Kenichi Takano; Noriko Ogasawara; Tatsuo Matsunaga; Hideki Mutai; Akihiro Sakurai; Aki Ishikawa; Tetsuo Himi
Journal:  Hum Genome Var       Date:  2016-08-04
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.