Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients.

Mazereeuw-Hautier, J; Bitoun, E; Chevrant-Breton, J; Man, S Y K; Bodemer, C; Prins, C; Antille, C; Saurat, J-H; Atherton, D; Harper, J I; Kelsell, D P; Hovnanian, A

Mazereeuw-Hautier, J; Bitoun, E; Chevrant-Breton, J; Man, S Y K; Bodemer, C; Prins, C; Antille, C; Saurat, J-H; Atherton, D; Harper, J I; Kelsell, D P; Hovnanian, A.

Affiliation

Mazereeuw-Hautier J; Service de Dermatologie, Hôpital Rangueil, TSA 50032, Toulouse, France. mazereeuw-hautier.j@chu-toulouse.fr

Br J Dermatol ; 156(5): 1015-9, 2007 May.

Article in En | MEDLINE | ID: mdl-17381453

Subject(s)

Abnormalities, Multiple/genetics; Connexins/genetics; Deafness/genetics; Ichthyosis/genetics; Keratitis/genetics; Adolescent; Adult; Child; Cohort Studies; Connexin 26; DNA Mutational Analysis; Female; Genotype; Heterozygote; Humans; Male; Middle Aged; Mutation; Phenotype; Syndrome

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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Connexins / Deafness / Ichthyosis / Keratitis Type of study: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: Br J Dermatol Year: 2007 Document type: Article Affiliation country: France Country of publication: United kingdom

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