✦ LIBER ✦

Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome

✍ Scribed by Gabriele Richard; Fatima Rouan; Colin E. Willoughby; Nkecha Brown; Pil Chung; Markku Ryynänen; Ethylin Wang Jabs; Sherri J. Bale; John J. DiGiovanna; Jouni Uitto; Laura Russell

Book ID: 117853882
Publisher: American Society of Human Genetics
Year: 2002
Tongue: English
Weight: 595 KB
Volume: 70
Category: Article
ISSN: 0002-9297
DOI: 10.1086/339986

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Connexin 26 (GJB2) mutations in keratiti

Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma

✍ Jun-Ichi SAKABE; Ryutaro YOSHIKI; Kazunari SUGITA; Sanehito HARUYAMA; Yu SAWADA; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 French ⚖ 236 KB

Keratitis–ichthyosis–deafness syndrome:

Keratitis–ichthyosis–deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients

✍ J. Mazereeuw-Hautier; E. Bitoun; J. Chevrant-Breton; S.Y.K. Man; C. Bodemer; C. 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 678 KB

De novo mutation in the gene encoding co

De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome

✍ Araceli Álvarez; Ignacio del Castillo; Alejandra Pera; Manuela Villamar; Miguel 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 100 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

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

Extending the Phenotypic Spectrum of Ker

Extending the Phenotypic Spectrum of Keratitis-Ichthyosis-Deafness Syndrome: Report of a Patient with GJB2 (G12R) Connexin 26 Mutation and Unusual Clinical Findings

✍ Tamara Lazic; Qiaoli Li; Michael Frank; Jouni Uitto; Linda H. Zhou 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 715 KB