Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1.

Loh, A Y T; Ho, C M; Muthiah, S; Venkatesh, B; Zwolinski, S; Bray, A P J J; Reversade, B; Rajan, N; Carney, T J

Loh, A Y T; Ho, C M; Muthiah, S; Venkatesh, B; Zwolinski, S; Bray, A P J J; Reversade, B; Rajan, N; Carney, T J.

Affiliation

Loh AYT; Genome Institute of Singapore, Laboratory of Human Genetics and Therapeutics, A*STAR (Agency for Science, Technology and Research), 8A Biomedical Grove, Immunos, 138648, Singapore.
Ho CM; Institute of Molecular and Cellular Biology (IMCB), A*STAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Proteos, 138673, Singapore.
Muthiah S; Lee Kong Chian School of Medicine, Experimental Medicine Building, Yunnan Garden Campus, Nanyang Technological University, 59 Nanyang Drive, 636921, Singapore.
Venkatesh B; Translational and Clinical Research Institute, Newcastle University, Centre for Life, Newcastle upon Tyne, NE1 7RU, UK.
Zwolinski S; Institute of Molecular and Cellular Biology (IMCB), A*STAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Proteos, 138673, Singapore.
Bray APJJ; Translational and Clinical Research Institute, Newcastle University, Centre for Life, Newcastle upon Tyne, NE1 7RU, UK.
Reversade B; Bristol Dermatology Centre, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
Rajan N; Genome Institute of Singapore, Laboratory of Human Genetics and Therapeutics, A*STAR (Agency for Science, Technology and Research), 8A Biomedical Grove, Immunos, 138648, Singapore.
Carney TJ; Institute of Molecular and Cellular Biology (IMCB), A*STAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Proteos, 138673, Singapore.

Br J Dermatol ; 184(6): 1205-1207, 2021 06.

Article de En | MEDLINE | ID: mdl-33400266

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Sclérodermie localisée / Tumeurs cutanées / Helicase / Kératose Limites: Female / Humans / Male Langue: En Journal: Br J Dermatol Année: 2021 Type de document: Article Pays d'affiliation: Singapour

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