Literature DB >> 15635064

Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.

N J Leonard1, A L Krol, S Bleoo, M J Somerville.   

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Year:  2005        PMID： 15635064      PMCID： PMC1735917          DOI： 10.1136/jmg.2003.017376

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  4 in total

1.  A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26.

Authors:  Ken Arita; Masashi Akiyama; Tomoyasu Aizawa; Yoshitaka Umetsu; Ikuo Segawa; Maki Goto; Daisuke Sawamura; Makoto Demura; Keiichi Kawano; Hiroshi Shimizu
Journal:  Am J Pathol       Date:  2006-08       Impact factor: 4.307

Review 2.  Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

Authors:  Niloofar Bazazzadegan; Abraham M Sheffield; Masoomeh Sobhani; Kimia Kahrizi; Nicole C Meyer; Guy Van Camp; Nele Hilgert; Seyedeh Sedigheh Abedini; Farkhondeh Habibi; Ahmad Daneshi; Carla Nishimura; Matthew R Avenarius; Mohammad Farhadi; Richard J H Smith; Hossein Najmabadi
Journal:  Am J Med Genet A       Date:  2011-04-11       Impact factor: 2.802

3.  GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

Authors:  Sandra Iossa; Elio Marciano; Annamaria Franzé
Journal:  Curr Genomics       Date:  2011-11       Impact factor: 2.236

4.  Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness.

Authors:  Xinyuan Tian; Chuan Zhang; Bingbo Zhou; Xue Chen; Xuan Feng; Lei Zheng; Yupei Wang; Shengju Hao; Ling Hui
Journal:  Front Genet       Date:  2022-07-22       Impact factor: 4.772
  4 in total

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