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Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg.
- Source :
-
Acta dermato-venereologica [Acta Derm Venereol] 2019 Sep 01; Vol. 99 (10), pp. 921-922. - Publication Year :
- 2019
- Subjects :
- Child
Connexin 26
Deafness diagnosis
Deafness therapy
Disease Progression
Fatal Outcome
Genetic Predisposition to Disease
Humans
Ichthyosis diagnosis
Ichthyosis therapy
Keratitis diagnosis
Keratitis therapy
Male
Phenotype
Connexins genetics
Deafness genetics
Ichthyosis genetics
Keratitis genetics
Mutation
Subjects
Details
- Language :
- English
- ISSN :
- 1651-2057
- Volume :
- 99
- Issue :
- 10
- Database :
- MEDLINE
- Journal :
- Acta dermato-venereologica
- Publication Type :
- Report
- Accession number :
- 31099403
- Full Text :
- https://doi.org/10.2340/00015555-3218