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Meyer-Landolt, Lukas; Gaspar, Harald; Sanz, Javier; Trippel, Mafalda; Sabina, Gallati; Rössler, Jochen (2022). Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene. American journal of medical genetics. Part A, 188(11), pp. 3318-3323. Wiley-Liss 10.1002/ajmg.a.62961
Gaspar, Harald; Lutz, Bernd; Reicherter, Kerstin; Lühl, Simon; Taurman, Rita; Gabriel, Heinz; Brenner, Rolf E; Borck, Guntram (2017). 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys-Dietz syndrome and osteoporosis in adulthood. American journal of medical genetics. Part A, 173(8), pp. 2289-2292. Wiley-Liss 10.1002/ajmg.a.38286
