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

Kazumitsu Sugiura, Masaaki Teranishi, Yoshinari Matsumoto, Masashi Akiyama

Research output: Contribution to journal › Article

10 Citations (Scopus)
Original languageEnglish
Pages (from-to)1350-1351
Number of pages2
JournalJAMA Dermatology
Volume149
Issue number11
DOIs
Publication statusPublished - 11-2013

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Ectodermal Dysplasia
Photophobia
Connexins
Sensorineural Hearing Loss
Missense Mutation
Young Adult
Mutation

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Sugiura, Kazumitsu ; Teranishi, Masaaki ; Matsumoto, Yoshinari ; Akiyama, Masashi. / Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. In: JAMA Dermatology. 2013 ; Vol. 149, No. 11. pp. 1350-1351.
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Sugiura, K, Teranishi, M, Matsumoto, Y & Akiyama, M 2013, 'Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia', JAMA Dermatology, vol. 149, no. 11, pp. 1350-1351. https://doi.org/10.1001/jamadermatol.2013.4766

Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. / Sugiura, Kazumitsu; Teranishi, Masaaki; Matsumoto, Yoshinari; Akiyama, Masashi.

In: JAMA Dermatology, Vol. 149, No. 11, 11.2013, p. 1350-1351.

Research output: Contribution to journal › Article

TY - JOUR

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AU - Sugiura, Kazumitsu

AU - Teranishi, Masaaki

AU - Matsumoto, Yoshinari

AU - Akiyama, Masashi

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Sugiura K, Teranishi M, Matsumoto Y, Akiyama M. Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. JAMA Dermatology. 2013 Nov;149(11):1350-1351. https://doi.org/10.1001/jamadermatol.2013.4766

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