Open AccessVohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
Author(s) -
YiHua Liao,
Paul-Chen Hsieh,
ChenChi Wu,
NiChung Lee,
Jung–Hsien Hsieh
Publication year - 2020
Publication title -
dermatologica sinica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.604
H-Index - 17
eISSN - 2223-330X
pISSN - 1027-8117
DOI - 10.4103/ds.ds_14_20
Subject(s) - missense mutation , medicine , sensorineural hearing loss , hearing loss , palmoplantar keratoderma , connexin , mutation , phenotype , genetics , keratoderma , gene , dermatology , hyperkeratosis , biology , audiology , gap junction , intracellular
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