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

✍ Scribed by N Weisschuh; C Wolf; B Wissinger; E Gramer


Book ID
110888627
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
238 KB
Volume
74
Category
Article
ISSN
0009-9163

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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