𝔖 Bobbio Scriptorium
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Germ-line mosaicism in Waardenburg syndrome

✍ Scribed by Saroj Kapur; Susan Karam


Book ID
115090167
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
310 KB
Volume
39
Category
Article
ISSN
0009-9163

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## Abstract Rubinstein–Taybi syndrome (RSTS) is a rare autosomal dominant genetic disease and is characterized by mental retardation, distinctive facial features, broad and often angulated thumbs and great toes, short stature, and growth retardation. __CREBBP__ and __EP300__ are the only genes curr