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Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe
- Source :
- Acta Dermato-Venereologica, Acta Dermato-Venereologica, 2014, 94 (5), pp.591-592. ⟨10.2340/00015555-1818⟩
- Publication Year :
- 2014
- Publisher :
- HAL CCSD, 2014.
-
Abstract
- International audience; Keratosis–Ichthyosis–Deafness (KID) syndrome is a rare form of ichthyosis caused by mutations in the gene GJB2 encoding the gap junction protein connexin 26 (Cx26). Connexins are a family of integral membrane proteins forming gap junction channels that control and coordinate a variety of cellular activities through the exchange of small ions, metabolites and signalling molecules.
- Subjects :
- Male
medicine.medical_specialty
MESH: Fatal Outcome
Fatal outcome
MESH: Mutation
Keratitis–ichthyosis–deafness syndrome
MESH: Amino Acid Substitution / genetics
Dermatology
Deafness
Connexins
Exon
Gjb2 gene
Fatal Outcome
[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases
MESH: Connexin 26
medicine
otorhinolaryngologic diseases
Humans
MESH: Deafness / genetics
Keratitis
MESH: Humans
business.industry
Ichthyosis
Infant
General Medicine
Exons
medicine.disease
MESH: Male
Connexin 26
Amino Acid Substitution
Mutation (genetic algorithm)
Mutation
MESH: Connexins / genetics
[SDV.MHEP.MI] Life Sciences [q-bio]/Human health and pathology/Infectious diseases
MESH: Infant Keratitis / genetics
business
MESH: Exons
MESH: Ichthyosis / genetics
Subjects
Details
- Language :
- English
- ISSN :
- 00015555
- Database :
- OpenAIRE
- Journal :
- Acta Dermato-Venereologica, Acta Dermato-Venereologica, 2014, 94 (5), pp.591-592. ⟨10.2340/00015555-1818⟩
- Accession number :
- edsair.doi.dedup.....1eb91117b6fb3abe9fdd62236951c06a
- Full Text :
- https://doi.org/10.2340/00015555-1818⟩