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

✍ Scribed by Gripp, Karen W.; Hopkins, Elizabeth; Jenny, Kim; Thacker, Deepika; Salvin, Jonathan

Book ID
118751186
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
227 KB
Volume
161
Category
Article
ISSN
1552-4825

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## Abstract This study reports a 25‐year follow‐up of a patient with De Hauwere syndrome (Axenfeld–Rieger anomaly, hydrocephalus, and hearing loss) whose intelligence is normal. Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate gen