A novel PITX2 mutation causing iris hypoplasia

Iris hypoplasia (IH) is rare autosomal dominant disorder characterized by a poorly developed iris stroma and malformations of the eyes and umbilicus. This disorder is caused by mutation of the paired-like homeodomain 2 (PITX2) gene. Here, we describe a novel PITX2 mutation (c.205C>T) in an IH fam...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Kimura, Masashi, Tokita, Yoshihito, Machida, Junichiro, Shibata, Akio, Tatematsu, Tadashi, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Miyachi, Hitoshi, Shimozato, Kazuo, Matsumoto, Naomichi, Nakashima, Mitsuko
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785520/
https://ncbi.nlm.nih.gov/pubmed/27081499
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2014.5
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados