✦ LIBER ✦

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A

✍ Scribed by Lederer, Damien; Shears, Debbie; Benoit, Valérie; Verellen-Dumoulin, Christine; Maystadt, Isabelle

Book ID: 121790357
Publisher: John Wiley and Sons
Year: 2014
Tongue: English
Weight: 234 KB
Volume: 164
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.36442

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Deletion of KDM6A, a Histone Demethylase

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

✍ Damien Lederer; Bernard Grisart; Maria Cristina Digilio; Valérie Benoit; Mariann 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 444 KB

Extreme variation in X-linked agammaglob

Extreme variation in X-linked agammaglobulinemia phenotype in a three-generation family

✍ Kornfeld, Stephen J.; Haire, Robert N.; Strong, Scott J.; Brigino, Emerita N.; T 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 504 KB

Identification of KMT2D and KDM6A mutati

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

✍ Cheon, Chong Kun; Sohn, Young Bae; Ko, Jung Min; Lee, Yeoun Joo; Song, Ji Sun; M 📂 Article 📅 2014 🏛 Nature Publishing Group 🌐 English ⚖ 910 KB

De novo ANKRD11 and KDM1A gene mutations

De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome

✍ Tunovic, Sanjin; Barkovich, James; Sherr, Elliott H.; Slavotinek, Anne M. 📂 Article 📅 2014 🏛 John Wiley and Sons 🌐 English ⚖ 619 KB

A novel G472R mutation in a Turkish fami

A novel G472R mutation in a Turkish family with X-linked Alport syndrome

✍ R. Topaloglu; K. E. Plant; F. Flinter 📂 Article 📅 2000 🏛 Springer 🌐 English ⚖ 16 KB

MLL2 mutation detection in 86 patients w

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study

✍ Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodríguez-Santiago, B; Simpson, M; 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 811 KB