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...

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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785520/
https://www.ncbi.nlm.nih.gov/pubmed/27081499
http://dx.doi.org/10.1038/hgv.2014.5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785520/
https://www.ncbi.nlm.nih.gov/pubmed/27081499
http://dx.doi.org/10.1038/hgv.2014.5

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