𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome

✍ Scribed by Charman, Tony; Neilson, Tracey C S; Mash, Veronica; Archer, Hayley; Gardiner, Mary T; Knudsen, Gun P S; McDonnell, Aoibhinn; Perry, Jacqueline; Whatley, Sharon D; Bunyan, David J

Book ID
110026375
Publisher
Nature Publishing Group
Year
2005
Tongue
English
Weight
217 KB
Volume
13
Category
Article
ISSN
1018-4813

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular analysis of Japanese patients
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation
✍ Yasukazu Yamada; Kiyokuni Miura; Toshiyuki Kumagai; Chiemi Hayakawa; Shuji Miyaz 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 90 KB

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

Identification of novel mutations in WFS
Identification of novel mutations in WFS1 and genotype–phenotype correlation in Wolfram syndrome
✍ A. Cano; C. Rouzier; S. Monnot; B. Chabrol; J. Conrath; P. Lecomte; B. Delobel; 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 153 KB 👁 2 views

## 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,