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Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.
Hendricks LAJ, Schuurs-Hoeijmakers J, Spier I, Haadsma ML, Eijkelenboom A, Cremer K, Mensenkamp AR, Aretz S, Vos JR, Hoogerbrugge N. Hendricks LAJ, et al. Among authors: haadsma ml. Eur J Med Genet. 2022 Jul;65(7):104533. doi: 10.1016/j.ejmg.2022.104533. Epub 2022 May 28. Eur J Med Genet. 2022. PMID: 35640862 Free article. Review.
TINF2 is a haploinsufficient tumor suppressor that limits telomere length.
Schmutz I, Mensenkamp AR, Takai KK, Haadsma M, Spruijt L, de Voer RM, Choo SS, Lorbeer FK, van Grinsven EJ, Hockemeyer D, Jongmans MC, de Lange T. Schmutz I, et al. Among authors: haadsma m. Elife. 2020 Dec 1;9:e61235. doi: 10.7554/eLife.61235. Elife. 2020. PMID: 33258446 Free PMC article.
38 results