A novel PITX2 mutation causing iris hypoplasia-Reference-Cited by-同舟云学术

A novel PITX2 mutation causing iris hypoplasia

Published:2014-07-31 Issue:1 Volume:1 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/hgv20145.pdf

Reference20 articles.

1. Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998; 125: 98–100.

2. Kulak SC, Kozlowski K, Semina EV, Pearce WG, Walter MA . Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome. Hum Mol Genet 1998; 7: 1113–1117.

3. Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392–399.

4. Shields MB, Buckley E, Klintworth GK, Thresher R . Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 1985; 29: 387–409.

5. Heon E, Sheth BP, Kalenak JW, Sunden SL, Streb LM, Taylor CM et al. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet 1995; 4: 1435–1439.

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