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FABRY DISEASE: A NEW MUTATION WITH PHENOTYPIC CORRELATION?

✍ Scribed by Ana Arévalo Gómez; Susana Rivera García; Roberto Barriales Vila; Lorenzo Monserrat Iglesias

Book ID
117646214
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
80 KB
Volume
22
Category
Article
ISSN
0953-6205

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📜 SIMILAR VOLUMES

Different phenotypic expression in relat
Different phenotypic expression in relatives with Fabry disease caused by a W226X mutation
✍ Knol, I.E.; Ausems, M.G.E.M.; Lindhout, D.; van Diggelen, O.P.; Verwey, H.; Davi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

Two male relatives with Fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. Fabry disease is an X-linked inborn err