Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics-Reference-Cited by-同舟云学术

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Published:2015-01-10 Issue:3 Volume:56 Page:329-337
ISSN:1234-1983
Container-title:Journal of Applied Genetics
language:en
Short-container-title:J Appl Genetics

Author:

Kutkowska-Kaźmierczak Anna,Niepokój Katarzyna,Wertheim-Tysarowska Katarzyna,Giza Aleksandra,Mordasewicz-Goliszewska Maria,Bal Jerzy,Obersztyn Ewa

Publisher

Springer Science and Business Media LLC

Subject

Genetics,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s13353-014-0266-1.pdf

Reference34 articles.

1. Alvarez A, del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, Moreno R, Tapia MC (2003) De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis–ichthyosis–deafness (KID) syndrome. Am J Med Genet A 117A:89–91

2. Arndt S, Aschendorff A, Schild C, Beck R, Maier W, Laszig R, Birkenhäger R (2010) A novel dominant and a de novo mutation in the GJB2 gene (connexin-26) cause keratitis–ichthyosis–deafness syndrome: implication for cochlear implantation. Otol Neurotol 31(2):210–215

3. Avshalumova L, Fabrikant J, Koriakos A (2014) Overview of skin diseases linked to connexin gene mutations. Int J Dermatol 53:192–205

4. Barbareschi M, Cambiaghi S, Crupi AC, Tadini G (1997) Family with “pure” hair–nail ectodermal dysplasia. Am J Med Genet 72:91–93

5. Bergman R, Mercer A, Indelman M, Sprecher E, Haim N, Zoller L, Ben-Izhak O, Hershkovitz D (2012) KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. Br J Dermatol 166:455–457

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1. Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report;World Journal of Clinical Cases;2023-02-26

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

3. The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome;Annals of Dermatology;2022

4. Alopecia, nail dystrophy, and palmoplantar keratoderma in a 7‐year‐old girl;Pediatric Dermatology;2021-09

5. Molecular characteristics and spatial distribution of adult human corneal cell subtypes;Scientific Reports;2021-08-11

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