Article
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
European journal of medical genetics - 1 Dec 2022
Hendricks Linda A J, Hoogerbrugge Nicoline, Venselaar Hanka, Aretz Stefan, Spier Isabel, Legius Eric, Brems Hilde, de Putter Robin, Claes Kathleen B M, Evans D Gareth, Woodward Emma R, Genuardi Maurizio, Brugnoletti Fulvia, van Ierland Yvette, Dijke Kim, Tham Emma, Tesi Bianca, Schuurs-Hoeijmakers Janneke H M, Branchaud Maud, Salvador Hector, Jahn Arne, Schnaiter Simon, Anastasiadou Violetta Christophidou, Brunet Joan, Oliveira Carla, Roht Laura, Blatnik Ana, Irmejs Arvids, Mensenkamp Arjen R, Vos Janet R
Abstract excerpt
BACKGROUND: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. Knowledge about these spectra and genotype-phenotype associations could help diagnostics and potentially lead to personalized care. Therefore, we assessed the PHTS genotype and phenotype spectrum in a large cohort study. METHODS: Information was collected of 510 index...
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