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A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.
Lauritsen KF, Lildballe DL, Coucke PJ, Monrad R, Larsen DA, Gregersen PA. Lauritsen KF, et al. Among authors: gregersen pa. Eur J Med Genet. 2017 May;60(5):275-278. doi: 10.1016/j.ejmg.2017.03.005. Epub 2017 Mar 14. Eur J Med Genet. 2017. PMID: 28315471
Corrigendum to "Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex" [Mol. Genet. Metab. 120(4) (Apr 2017) 384-391].
Møller LB, Schönewolf-Greulich B, Rosengren T, Larsen LJ, Ostergaard JR, Sommerlund M, Ostenfeldt C, Stausbøl-Grøn B, Linnet KM, Gregersen PA, Jensen UB. Møller LB, et al. Among authors: gregersen pa. Mol Genet Metab. 2018 Dec;125(4):361. doi: 10.1016/j.ymgme.2017.11.007. Epub 2018 Jan 8. Mol Genet Metab. 2018. PMID: 29325814 No abstract available.
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL, Bojesen AB, Rasmussen M, Becher N, Andreasen L, Andersen BN, Erbs E, Lildballe DL, Nielsen JEK, Zilmer M, Hammer TB, Andersen MØ, Brasch-Andersen C, Fagerberg CR, Illum NO, Thorup MB, Gregersen PA. Faergeman SL, et al. Among authors: gregersen pa. Eur J Med Genet. 2021 Sep;64(9):104280. doi: 10.1016/j.ejmg.2021.104280. Epub 2021 Jul 3. Eur J Med Genet. 2021. PMID: 34229113
B3GAT3-related linkeropathy and an in-frame homozygous deletion in an adult patient.
Bolund ACS, Langdahl B, Laurberg TB, Hellfritzsch MB, Gjørup H, Møller-Madsen B, Nielsen TØ, Farholt S, Gregersen PA. Bolund ACS, et al. Among authors: gregersen pa. Eur J Med Genet. 2021 Dec;64(12):104342. doi: 10.1016/j.ejmg.2021.104342. Epub 2021 Sep 16. Eur J Med Genet. 2021. PMID: 34537402 Free article. Review.
53 results