Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Author:

Hendricks Linda A.J.ORCID,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.,Duijkers Floor,Giltay Jacques C.,van Hest Liselotte P.,Kleefstra Tjitske,Leter Edward M.,Nielsen Maartje,Nijmeijer Sebastiaan W.R.,Olderode-Berends Maran J.W.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference30 articles.

1. The protein Data Bank;Berman;Nucleic Acids Res.,2000

2. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome;Bubien;J. Med. Genet.,2013

3. Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism;Frazier;Mol. Psychiatr.,2015

4. Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay;Han;Cancer Res.,2000

5. A review on age-related cancer risks in PTEN hamartoma tumor syndrome;Hendricks;Clin. Genet.,2021

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