The finding of extensive lytic lesions in the mandible of a 19-year-old Ashkenazi Jewish woman led to the diagnosis of Type 1 Gaucher disease. She had extensive skeletal involvement, marked hepatosplenomegaly, and deficient acid β€-glucosidase activity. Mutation analysis identified heteroallelism for
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum
β Scribed by L. Spruijt; L.H. Hoefsloot; G.H.W.H. van Schaijk; D. van Waardenburg; B. Kremer; H.J.L. Brackel; C.E.M. de Die-Smulders
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 131 KB
- Volume
- 140A
- Category
- Article
- ISSN
- 1552-4825
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