## Abstract Mutations in the __WFS1__ gene have been reported in Wolfram syndrome (WS), an autosomal recessive disorder defined by early onset of diabetes mellitus (DM) and progressive optic atrophy. Because of the low prevalence of this syndrome and the recent identification of the __WFS1__ gene,
Wolfram syndrome: Identification of a phenotypic and genotypic variant from Jordan
β Scribed by Ajlouni, Kamel ;Jarrah, Nadim ;El-Khateeb, Mohammed ;El-Zaheri, Mohamed ;El Shanti, Hatem ;Lidral, Andrew
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 66 KB
- Volume
- 115
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
AlstrΓΆm syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, and pulmo
Rett syndrome is an X-linked dominant neurodevelopmental disorder that affects females almost exclusively. The recent identification of mutations of the methyl-CpG-binding protein 2 gene (MECP2) in patients with RTT, encouraged us to analyze the gene in 37 Japanese patients divided into classical RT