GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form-Reference-Cited by-同舟云学术

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GJB2mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

Published:2005-01-04 Issue:2 Volume:133A Page:128-131
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Janecke Andreas R.,Hennies Hans Christian,Günther Barbara,Gansl Gabriele,Smolle Josef,Messmer Elisabeth M.,Utermann Gerd,Rittinger Olaf

Funder

Medizinischer Forschungsfond Tirol

Austrian Science Fund research (to A.R.J.)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of Keratitis-Ichthyosis-Deafness (KID) syndrome;Alvarez;Am J Med Genet,2003

2. Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders;Bakirtzis;Hum Mol Genet,2003

3. Keratitis, Ichthyosis, and Deafness (KID syndrome): Review of the literature and proposal of a new technology;Caceres-Rios;Pediatr Dermatol,1996

4. Connexin 26 gene linked to a dominant deafness;Denoyelle;Nature,1998

5. Fatal septicemia in an infant with Keratitis, Ichthyosis, and Deafness (KID) syndrome;Gilliam;Pediatr Dermatol,2002

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1. A Protocol for the Automated Assessment of Cutaneous Pathology in a Mouse Model of Hemichannel Dysfunction;Methods in Molecular Biology;2024

2. Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains;Biomolecules;2023-10-13

3. Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases;Pathogens;2023-03-14

4. Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice;eBioMedicine;2023-03

5. Keratitis‐ichthyosis‐deafness syndrome: A comprehensive review of cutaneous and systemic manifestations;Pediatric Dermatology;2022-11-29

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