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Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
Herlin LK, Schmidt SAJ, Hermann XB, Rønholt K, Bygum A, Schuster A, Lei U, Mogensen M, Vinding GR, Djursby M, Hove H, Blechingberg J, Graversen L, Mogensen TH, Gjørup H, Langan SM, Sommerlund M. Herlin LK, et al. JAMA Dermatol. 2024 May 1;160(5):502-510. doi: 10.1001/jamadermatol.2024.0036. JAMA Dermatol. 2024. PMID: 38477886
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.
Herlin LK, Herlin MK, Blechingberg J, Rønholt K, Graversen L, Schmidt SAJ, Jørgensen MW, Hellfritzsch MB, Hald JD, Beck-Nielsen SS, Gjørup H, Andersen BN, Gregersen PA, Sommerlund M. Herlin LK, et al. Eur J Med Genet. 2024 Apr 2;69:104937. doi: 10.1016/j.ejmg.2024.104937. Online ahead of print. Eur J Med Genet. 2024. PMID: 38574886 Free article.