角膜炎 - 鱼鳞病 - 耳聋综合征: p. Asp50Asn GJB2 突变患者的表型异质性和治疗前景.
关键词: Connexin 26 GJB2 gap junctions ichthyosis therapy keratitis-ichthyosis-deafness syndrome
Mesh : Connexin 26 / genetics Deafness / diagnosis drug therapy genetics Humans Ichthyosis / diagnosis drug therapy genetics Keratitis / diagnosis drug therapy genetics Mutation Phenotype
来 源:
DOI:10.1111/dth.14493
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