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COL4A1 mutation in Axenfeld–Rieger anomaly with leukoencephalopathy and stroke

✍ Scribed by Igor Sibon; Isabelle Coupry; Patrice Menegon; Jean-Pierre Bouchet; Philippe Gorry; Ingrid Burgelin; Patrick Calvas; Isabelle Orignac; Vincent Dousset; Didier Lacombe; Jean-Marc Orgogozo; Benoît Arveiler; Cyril Goizet


Book ID
102705396
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
664 KB
Volume
62
Category
Article
ISSN
0364-5134

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✍ R. Brian Lowry; Douglas B. Gould; Michael A. Walter; Paul R. Savage 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 2 views

## 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