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Digenic Inheritance in Axenfeld Rieger Syndrome

โœ Scribed by Nicole Weisschuh


Book ID
102261312
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
81 KB
Volume
32
Category
Article
ISSN
1059-7794

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Digenic inheritance of mutations in FOXC
โœ Daniel Kelberman; Lily Islam; Susan E. Holder; Thomas S. Jacques; Patrick Calvas ๐Ÿ“‚ Article ๐Ÿ“… 2011 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 408 KB

Disease-causing mutations affecting either one of the transcription factor genes, PITX2 or FOXC1, have been previously identified in patients with Axenfeld-Rieger syndrome (AR). We identified a family who segregate novel mutations in both PITX2 (p.Ser233Leu) and FOXC1 (c.609delC). The most severely