Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

BACKGROUND: Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an id...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454730/
https://ncbi.nlm.nih.gov/pubmed/30961538
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0795-x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados