ADULT syndrome: phenotype in a Brazilian family with the R298Q mutation.

de Almeida, Hiram L; van Steensel, Maurice; Rocha, Aroni; Caspary, Patrícia; Meijer, Rowdy

de Almeida, Hiram L; van Steensel, Maurice; Rocha, Aroni; Caspary, Patrícia; Meijer, Rowdy.

Affiliation

de Almeida HL; Department of Dermatology, Federal University of Pelotas, Pelotas, Brazil.
van Steensel M; Department of Dermatology, Catholic University of Pelotas, Pelotas, Brazil.
Rocha A; Skin Research Institute of Singapore, Agency for Science, Technology and Research, Singapore and Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore.
Caspary P; Department of Dermatology, Federal University of Pelotas, Pelotas, Brazil.
Meijer R; Medicine and Health Science Post-Graduation Program, Pontifical Catholic University of Rio Grande do Sul, Porto Alegre, Brazil.

Int J Dermatol ; 58(3): e72-e75, 2019 Mar.

Article in En | MEDLINE | ID: mdl-30656674

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Pigmentation Disorders / Transcription Factors / Breast / Ectodermal Dysplasia / Limb Deformities, Congenital / Tumor Suppressor Proteins / Lacrimal Duct Obstruction / Anodontia / Nails, Malformed Type of study: Diagnostic_studies Limits: Adolescent / Female / Humans / Male Country/Region as subject: America do sul / Brasil Language: En Journal: Int J Dermatol Year: 2019 Document type: Article Affiliation country: Brasil Country of publication: Reino Unido

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