Connexin 26 (GJB2) mutations in two swedish patients with atypical vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin
- Author
- BONDESON, Marie-Louise1 ; NYSTRÖM, Anna-Maja1 ; GUNNARSSON, Ulrika1 ; VAHLQUIST, Anders2
[1] Department of Genetics and Pathology, University of Uppsala, Uppsala, Sweden
[2] Department of Medical Sciences (Dermatology), University of Uppsala, Uppsala, Sweden - Source
Acta dermato-venereologica. 2006, Vol 86, Num 6, pp 503-508, 6 p ; ref : 29 ref
- CODEN
- ADVEA4
- ISSN
- 0001-5555
- Scientific domain
- Dermatology; Microbiology, infectious diseases
- Publisher
- Acta dermato-venereologica, Uppsala
- Publication country
- Sweden
- Document type
- Article
- Language
- English
- Author keyword
- genodermatosis; deafness; cancer; acitretin; Cx26 mutation
- Keyword (fr)
- Acitrétine Atypique Connexine Dermatologie Etude cas Homme KID syndrome Kératodermie palmoplantaire Vohwinkel Kératodermie Maladie héréditaire Mutation Peau pathologie Surdité Traitement Tumeur maligne Cancer Dyskératose Hyperkératose ORL pathologie Oeil pathologie Rétinoïde Syndrome complexe Trouble audition
- Keyword (en)
- Acitretin Atypical Connexin Dermatology Case study Human KID syndrome Keratoderma palmoplantaris Vohwinkel Keratoderma Genetic disease Mutation Skin disease Hearing loss Treatment Malignant tumor Cancer Dyskeratosis Hyperkeratosis ENT disease Eye disease Retinoid Complex syndrome Auditory disorder
- Keyword (es)
- Acitretina Atípico Connexina Dermatología Estudio caso Hombre KID síndrome Queratodermia palmoplantar Vohwinkel Queratodermia Enfermedad hereditaria Mutación Piel patología Sordera Tratamiento Tumor maligno Cáncer Disqueratosis Hiperqueratosis ORL patología Ojo patología Retinoide Síndrome complejo Trastorno auditivo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B08 Dermatology / 002B08I Dyskeratosis
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B10 Otorhinolaryngology. Stomatology / 002B10D Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology / 002B10D02 Non tumoral diseases
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Dermatology Medical genetics Otorhinolaryngology. Stomatology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18378879
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.2340/00015555-0164 
https://dx.doi.org/10.2340/00015555-0164
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