𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

✍ Scribed by Adele Schneider; Tanya Bardakjian; Linda M. Reis; Rebecca C. Tyler; Elena V. Semina


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
46 KB
Volume
158A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Identification of novel mutations in WFS
✍ 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,

MECP2 gene mutations in non-syndromic X-
✍ Gomot, Marie ;Gendrot, Chantal ;Verloes, Alain ;Raynaud, Martine ;David, Albert 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 156 KB 👁 2 views

## Abstract Non‐syndromic X‐linked mental retardation (MRX) is a frequent cause of inherited mental retardation. It is a heterogeneous condition in which the first 12 genes discovered to date explain no more than 15% of the MRX situations ascertained by recurrence in multiplex families. In Rett syn