## 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,
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation
✍ Scribed by Rujirabanjerd, Sinitdhorn; Nelson, John; Tarpey, Patrick S; Hackett, Anna; Edkins, Sarah; Raymond, F Lucy; Schwartz, Charles E; Turner, Gillian; Iwase, Shigeki; Shi, Yang
- Book ID
- 109849039
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 433 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1018-4813
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
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
## Communicated by Sergio Ottolenghi Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-u
## Communicated by Jurgen Horst Marfan syndrome (MFS) is an autosomal-dominant disorder of the fibrous connective tissue that is typically caused by mutations in the gene coding for fibrillin-1 (FBN1), a major component of extracellular microfibrils. The clinical spectrum of MFS is highly variable