✦ LIBER ✦

ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern

✍ Scribed by Catherine Badens; Nathalie Martini; Sébastien Courrier; Vincent DesPortes; Renaud Touraine; Nicolas Levy; Patrick Edery

Book ID: 101448336
Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 112 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31400

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation of the XNP/ATR-X Gene in a Fami

Mutation of the XNP/ATR-X Gene in a Family with Severe Mental Retardation, Spastic Paraplegia and Skewed Pattern of X Inactivation: Demonstration that the Mutation is Involved in the Inactivation Bias

✍ A.M. Lossi; J.M. Millán; L. Villard; C. Orellana; C. Cardoso; F. Prieto; M. Font 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 349 KB

Skewed X chromosome inactivation failed

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome

✍ S Takahashi; J Ohinata; Y Makita; N Suzuki; A Araki; A Sasaki; K Murono; H Tanak 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 273 KB