Literature DB >> 23863883

Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia.

Kazumitsu Sugiura1, Masaaki Teranishi, Yoshinari Matsumoto, Masashi Akiyama.   

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Year:  2013        PMID： 23863883     DOI： 10.1001/jamadermatol.2013.4766

Source DB:  PubMed          Journal:  JAMA Dermatol        ISSN： 2168-6068            Impact factor:   10.282


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  4 in total

1.  A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Authors:  Yuanyuan Kuang; Veronica Zorzi; Damiano Buratto; Gaia Ziraldo; Flavia Mazzarda; Chiara Peres; Chiara Nardin; Anna Maria Salvatore; Francesco Chiani; Ferdinando Scavizzi; Marcello Raspa; Min Qiang; Youjun Chu; Xiaojie Shi; Yu Li; Lili Liu; Yaru Shi; Francesco Zonta; Guang Yang; Richard A Lerner; Fabio Mammano
Journal:  EBioMedicine       Date:  2020-06-15       Impact factor: 8.143

2.  Do you know this syndrome? Clouston syndrome.

Authors:  Sarah Sanches; Priscila Regina Orso Rebellato; Andréa Buosi Fabre; Giovana Liz Marioto de Campos
Journal:  An Bras Dermatol       Date:  2017 May-Jun       Impact factor: 1.896

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

Authors:  Anna Kutkowska-Kaźmierczak; Katarzyna Niepokój; Katarzyna Wertheim-Tysarowska; Aleksandra Giza; Maria Mordasewicz-Goliszewska; Jerzy Bal; Ewa Obersztyn
Journal:  J Appl Genet       Date:  2015-01-10       Impact factor: 3.240

4.  GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

Authors:  Xiaofeng Shi; Dongya Li; Min Chen; Yichen Liu; Qi Yan; Xianqiu Yu; Yan Zhu; Yumei Li
Journal:  Int J Dermatol       Date:  2019-01-08       Impact factor: 2.736
  4 in total

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