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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. Among authors: sommerlund m. Eur J Med Genet. 2024 Jun;69:104937. doi: 10.1016/j.ejmg.2024.104937. Epub 2024 Apr 2. Eur J Med Genet. 2024. PMID: 38574886 Free article.
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.
Blechingberg J, Terkelsen T, Jensen UB, Rønholt K, Sommerlund M, Vinter H, Graversen L. Blechingberg J, et al. Among authors: sommerlund m. Am J Med Genet A. 2024 Nov 10:e63933. doi: 10.1002/ajmg.a.63933. Online ahead of print. Am J Med Genet A. 2024. PMID: 39523677
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.
Geilswijk M, Genuardi M, Woodward ER, Nightingale K, Huber J, Madsen MG, Liekelema-van der Heij D, Lisseman I, Marlé-Ballangé J, McCarthy C, Menko FH, Moorselaar RJAV, Radzikowska E, Richard S, Rajan N, Sommerlund M, Wetscherek MTA, Di Donato N, Maher ER, Brunet J. Geilswijk M, et al. Among authors: sommerlund m. Eur J Hum Genet. 2024 Dec;32(12):1542-1550. doi: 10.1038/s41431-024-01671-2. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085584 Free PMC article. Review.
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB, Brusgaard K, Lei U, Sommerlund M, Vinding GR, Sleire SOK, Christensen AH, Fast SP, Bach R, Bygum A, Ousager LB. Gram SB, et al. Among authors: sommerlund m. JAMA Dermatol. 2024 Dec 4:e244824. doi: 10.1001/jamadermatol.2024.4824. Online ahead of print. JAMA Dermatol. 2024. PMID: 39630431 Free PMC article.
104 results