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

JAMA Dermatol. 2013 Nov;149(11):1350-1. doi: 10.1001/jamadermatol.2013.4766.

Authors

Kazumitsu Sugiura¹, Masaaki Teranishi, Yoshinari Matsumoto, Masashi Akiyama

Affiliation

¹ Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

PMID: 23863883
DOI: 10.1001/jamadermatol.2013.4766

No abstract available

Publication types

Case Reports

MeSH terms

Asian People
Connexin 26
Connexin 30
Connexins / genetics*
Ectodermal Dysplasia / complications*
Ectodermal Dysplasia / genetics*
Female
Hearing Loss, Sensorineural / genetics*
Humans
Mutation, Missense / genetics*
Photophobia / genetics*
Young Adult

Substances

Connexin 30
Connexins
GJB2 protein, human
GJB6 protein, human
Connexin 26