✦ LIBER ✦

AFOXG1mutation in a boy with congenital variant of Rett syndrome

✍ Scribed by Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu

Book ID: 106257349
Publisher: Springer
Year: 2010
Tongue: English
Weight: 264 KB
Volume: 12
Category: Article
ISSN: 1364-6745
DOI: 10.1007/s10048-010-0255-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A haploinsufficiency of FOXG1 identified

A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome

✍ Kumakura, Akira; Takahashi, Satoru; Okajima, Kazuki; Hata, Daisuke 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 952 KB

Novel FOXG1 mutations associated with th

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

✍ Mencarelli, M. A. (author);Spanhol-Rosseto, A. (author);Artuso, R. (author);Rond 📂 Article 📅 2009 🏛 BMJ Publishing Group 🌐 English ⚖ 421 KB

Novel FOXG1 mutations associated with th

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome

✍ Mencarelli, M. A. (author);Spanhol-Rosseto, A. (author);Artuso, R. (author);Rond 📂 Article 📅 2009 🏛 BMJ Publishing Group 🌐 English ⚖ 421 KB

FOXG1 mutations in Japanese patients wit

FOXG1 mutations in Japanese patients with the congenital variant of Rett syndrome

✍ S Takahashi; N Matsumoto; A Okayama; N Suzuki; A Araki; K Okajima; H Tanaka; A M 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 687 KB

A novel CDKL5 mutation in a 47,XXY boy w

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome

✍ Stefano Sartori; Gabriella Di Rosa; Roberta Polli; Elisa Bettella; Giovanni Tric 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 3 views

Classic Rett syndrome in a boy with R133

Classic Rett syndrome in a boy with R133C mutation of MECP2

✍ Tatsuo Masuyama; Muneaki Matsuo; Jin J. Jing; Yasuharu Tabara; Kyoko Kitsuki; Hi 📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 151 KB