✦ LIBER ✦

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

✍ Scribed by Tamara Lazic; Qiaoli Li; Michael Frank; Jouni Uitto; Linda H. Zhou

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Extending the phenotypic spectrum of ker

📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 43 KB

A novel mutation in the GJB2 (connexin 2

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

A novel mutation in the connexin 26 gene

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

A rare connexin 26 mutation in a patient

✍ Ching Yin Neoh; Huijia Chen; See Ket Ng; Ellen Birgitte Lane; John Edmund Armour 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB

De novo mutation in the gene encoding co

✍ Araceli Álvarez; Ignacio del Castillo; Alejandra Pera; Manuela Villamar; Miguel 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB 👁 2 views

A novel connexin 26 gene mutation associ

✍ Jay R. Montgomery; Thomas W. White; Bryan L. Martin; Maria L. Turner; Steven M. 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 688 KB