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Axenfeld–Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

✍ Scribed by Tümer, Zeynep; Bach-Holm, Daniella

Book ID
109849191
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
393 KB
Volume
17
Category
Article
ISSN
1018-4813

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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

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