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Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe

Authors :
Isabelle Dreyfus
Christine Chiaverini
Jean-Philippe Lacour
Juliette Mazereeuw-Hautier
Aude Maza
Nathalie Jonca
Christophe Perrin
Nathalie Cardot-Leccia
Eric Bieth
Unité différenciation épidermique et auto-immunité rhumatoïde (UDEAR)
Université Toulouse III - Paul Sabatier (UT3)
Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)
Hôpital Larrey [Toulouse]
CHU Toulouse [Toulouse]
Hôpital Archet 2 [Nice] (CHU)
Hôpital Purpan [Toulouse]
Université Fédérale Toulouse Midi-Pyrénées
Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
CARBILLET, Véronique
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.

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⟩