Literature DB >> 30055074

Reassignment of HMX1 indicates copy number variation within 4p16.1 may be an alternative cause of oculoauricular phenotypes.

John C K Barber1.   

Abstract

Entities:  

Keywords:  4p16.1; HMX1; copy number variation; euchromatic variant; evolutionarily conserved region; oculoauricular phenotypes

Mesh：

Substances：

Year:  2018        PMID： 30055074     DOI： 10.1002/ajmg.a.40385

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


× No keyword cloud information.
  2 in total

1.  A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum.

Authors:  Angèle Tingaud-Sequeira; Aurélien Trimouille; Manju Salaria; Rachel Stapleton; Stéphane Claverol; Claudio Plaisant; Marc Bonneu; Estelle Lopez; Benoit Arveiler; Didier Lacombe; Caroline Rooryck
Journal:  Hum Genet       Date:  2021-01-21       Impact factor: 4.132

2.  Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS.

Authors:  Angèle Tingaud-Sequeira; Aurélien Trimouille; Sandrine Marlin; Estelle Lopez; Marie Berenguer; Souad Gherbi; Benoit Arveiler; Didier Lacombe; Caroline Rooryck
Journal:  Mol Genet Genomic Med       Date:  2020-08-01       Impact factor: 2.183
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.