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

✍ Scribed by Robert A Honkanen; Darryl Y Nishimura; Ruth E Swiderski; Steven R Bennett; Sungpyo Hong; Young H Kwon; Edwin M Stone; Val C Sheffield; Wallace L.M Alward


Book ID
117018815
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
410 KB
Volume
135
Category
Article
ISSN
0002-9394

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A novel homeobox mutation in the PITX2 g
✍ 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