Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene-Reference-Cited by-同舟云学术

Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

Published:2010-06-25 Issue:7 Volume:152A Page:1798-1802
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Birkenhäger Ralf,Lüblinghoff Nicola,Prera Erick,Schild Christian,Aschendorff Antje,Arndt Susan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33464/fullpdf

Reference16 articles.

1. Pseudodominants of two recessive connexin mutations in non-syndromic sensorineural hearing loss?;Birkenhäger;Laryngorhinootologie,2006

2. Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads (Letter);Chiu;J Derm Sci,2007

3. Knuckle pads, in an epidermal palmoplantar keratoderma patient with keratin 9 R163W transgrediens expression;Codispoti;Eur J Derm,2009

4. A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness;de Zwart-Storm;J Med Genet,2008

5. Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene;Denoyelle;Hum Mol Genet,1999

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