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Familial gigantism caused by an NSD1 mutation

✍ Scribed by Mieke M. van Haelst; Jeannette J.M. Hoogeboom; Genevieve Baujat; Hennie T. Brüggenwirth; Ingrid Van de Laar; Kim Coleman; Nazneen Rahman; Martinus F. Niermeijer; Sten L.S. Drop; Peter J. Scambler


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
208 KB
Volume
139A
Category
Article
ISSN
1552-4825

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Optic atrophy and sensorineural hearing
✍ Chunmei Li; Gregory Kosmorsky; Kang Zhang; Bradley J. Katz; Jian Ge; Elias I. Tr 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 120 KB

## Abstract Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic atrophy. Four genetic loci have been associated with ADOA: OPA1, OPA2, OPA3, and OPA4. Out of these four loci, only one gene has been identified, __OPA1.__ We previously described a unique syndrome of opt