✦ LIBER ✦

Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene

✍ Scribed by Stancanelli, Claudia; Taioli, Federica; Testi, Silvia; Fabrizi, Gian Maria; Arena, Maria Grazia; Granata, Francesca; Russo, Massimo; Gentile, Luca; Vita, Giuseppe; Mazzeo, Anna

Book ID: 119855273
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 498 KB
Volume: 17
Category: Article
ISSN: 1085-9489
DOI: 10.1111/j.1529-8027.2012.00439.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel congenital disorder of glycosyla

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

✍ Pérez, Belén; Medrano, Celia; Ecay, Maria Jesus; Ruiz-Sala, Pedro; Martínez-Pard 📂 Article 📅 2012 🏛 Springer 🌐 English ⚖ 450 KB

PReS-FINAL-2199: A novel mutation in the

PReS-FINAL-2199: A novel mutation in the CIAS1/NLRP3 gene associated with an unusual phenotype of CAPS

✍ Insalaco, A; Prencipe, G; Buonuomo, PS; Ceccherini, I; Bracaglia, C; Pardeo, M; 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 98 KB

Three novel mutations of the IRF6 gene w

Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome

✍ Patra Yeetong; Charan Mahatumarat; Pichit Siriwan; Nond Rojvachiranonda; Kanya S 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB 👁 2 views

A novel mutation in the GJB2 (connexin 2

A novel mutation in the GJB2 (connexin 26) gene in a child with clinical and histologic features of keratitis-ichthyosis-deafness syndrome

📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 45 KB

Demyelinating disease of central and per

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

✍ I. Erol; F. Alehan; R. Horvath; P. Schneiderat; B. Talim 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 826 KB

A novel mutation in the connexin 26 gene

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome

✍ U. Koppelhus; L. Tranebjærg; G. Esberg; M. Ramsing; M. Lodahl; N. D. Rendtorff; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 487 KB