✦ LIBER ✦

A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld–Rieger syndrome

✍ Scribed by Takefumi Suzuki; Kana Takahashi; Soichiro Kuwahara; Yuko Wada; Toshiaki Abe; Makoto Tamai

Book ID: 117017859
Publisher: Elsevier Science
Year: 2001
Tongue: English
Weight: 275 KB
Volume: 132
Category: Article
ISSN: 0002-9394
DOI: 10.1016/s0002-9394(01)01059-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Axenfeld-Rieger syndrome resulting from

Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25

✍ Mirzayans, Farideh; Gould, Douglas B; Héon, E; Billingsley, Gail D; Cheung, Jaso 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 132 KB

A novel mutation in the FOXC1 gene in a

A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly

✍ N Weisschuh; C Wolf; B Wissinger; E Gramer 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB

Identification of a novel frameshift mut

Identification of a novel frameshift mutation inPITX2gene in a Chinese family with Axenfeld-Rieger syndrome

✍ Yin, Hou-fa; Fang, Xiao-yun; Jin, Chong-fei; Yin, Jin-fu; Li, Jin-yu; Zhao, Su-j 📂 Article 📅 2014 🏛 SP Zhejiang University Press 🌐 English ⚖ 951 KB

A novel homeobox mutation in the PITX2 g

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes

✍ Faisal Idrees; Agnes Bloch-Zupan; Samantha L. Free; Daniela Vaideanu; Pamela J. 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB 👁 2 views

## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio

A family with Axenfeld–Rieger syndrome a

A family with Axenfeld–Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

✍ Robert A Honkanen; Darryl Y Nishimura; Ruth E Swiderski; Steven R Bennett; Sungp 📂 Article 📅 2003 🏛 Elsevier Science 🌐 English ⚖ 410 KB

Cardiac anomalies in Axenfeld-Rieger syn

Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation

✍ Gripp, Karen W.; Hopkins, Elizabeth; Jenny, Kim; Thacker, Deepika; Salvin, Jonat 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB