A novel PITX2 mutation causing iris hypoplasia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-07-31

AUTHORS

Masashi Kimura, Yoshihito Tokita, Junichiro Machida, Akio Shibata, Tadashi Tatematsu, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Hitoshi Miyachi, Kazuo Shimozato, Naomichi Matsumoto, Mitsuko Nakashima

ABSTRACT

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 family presenting with very mild eye features but with tooth agenesis as the most obvious clinical feature. More... »

PAGES

14005

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2014.5

DOI

http://dx.doi.org/10.1038/hgv.2014.5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1010074476

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27081499


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