可变性红斑角皮症：首例记录GJB3突变的日本病例。 - Suppr

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Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.

作者信息

Ikeya Shigeki, Urano Shoko, Sakabe Jun-Ichi, Ito Taisuke, Tokura Yoshiki

出版信息

J Dermatol. 2013 May;40(5):402-3. doi: 10.1111/1346-8138.12101. Epub 2013 Feb 27.

DOI:10.1111/1346-8138.12101

PMID:23442023

Abstract

摘要

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引用本文的文献

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A Connexin Gene () Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.

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Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.

作者信息

Ikeya Shigeki, Urano Shoko, Sakabe Jun-Ichi, Ito Taisuke, Tokura Yoshiki

出版信息

J Dermatol. 2013 May;40(5):402-3. doi: 10.1111/1346-8138.12101. Epub 2013 Feb 27.

DOI:10.1111/1346-8138.12101

PMID:23442023

Abstract

摘要

相似文献

Erythrokeratodermia variabilis: first Japanese case documenting GJB3 mutation.

J Dermatol. 2013 May;40(5):402-3. doi: 10.1111/1346-8138.12101. Epub 2013 Feb 27.

Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.

J Dermatol. 2012 Apr;39(4):400-1. doi: 10.1111/j.1346-8138.2011.01314.x. Epub 2011 Sep 28.

A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.

Clin Exp Dermatol. 2012 Dec;37(8):919-21. doi: 10.1111/j.1365-2230.2012.04406.x. Epub 2012 Jun 8.

A novel GJB3 (Cx31) missense mutation in a Chinese patient with erythrokeratodermia variabilis.

J Eur Acad Dermatol Venereol. 2011 Jan;25(1):113-5. doi: 10.1111/j.1468-3083.2010.03691.x.

An unusual missense mutation in the GJB3 gene resulting in severe erythrokeratodermia variabilis.

Acta Derm Venereol. 2011 Oct;91(6):714-5. doi: 10.2340/00015555-1135.

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.

Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28.

Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.

J Dermatol. 2020 Apr;47(4):e111-e113. doi: 10.1111/1346-8138.15206. Epub 2020 Jan 7.

Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva.

Indian J Dermatol Venereol Leprol. 2020 Jan-Feb;86(1):87-90. doi: 10.4103/ijdvl.IJDVL_926_18.

Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.

Clin Exp Dermatol. 2011 Jun;36(4):406-11. doi: 10.1111/j.1365-2230.2010.03986.x.

Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.

Eur J Dermatol. 2012 Mar-Apr;22(2):182-6. doi: 10.1684/ejd.2011.1617.

引用本文的文献

The genetic and molecular basis of a connexin-linked skin disease.

Biochem J. 2024 Nov 20;481(22):1639-1655. doi: 10.1042/BCJ20240374.

A Connexin Gene () Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.

Front Genet. 2022 May 23;13:797124. doi: 10.3389/fgene.2022.797124. eCollection 2022.