Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review-Reference-Cited by-同舟云学术

Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review

Published:2022-07 Issue:7 Volume:65 Page:104533
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Hendricks Linda A.J.^ORCID,Schuurs-Hoeijmakers Janneke,Spier Isabel,Haadsma Maaike L.,Eijkelenboom Astrid,Cremer Kirsten,Mensenkamp Arjen R.,Aretz Stefan,Vos Janet R.,Hoogerbrugge Nicoline^ORCID

Funder

European Commission

PTEN Research

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference20 articles.

1. New insights into the generation and role of de novo mutations in health and disease;Acuna-Hidalgo;Genome Biol.,2016

2. Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome;Drissen;Eur. J. Med. Genet.,2021

3. PTEN mosaicism with features of Cowden syndrome;Gammon;Clin. Genet.,2013

4. Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A;Golas;Am. J. Med. Genet.,2019

5. Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas;Goldenberg;Acta Neuropathol Commun,2019

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3. Utilizing PTEN immunohistochemistry as a screening test for Cowden syndrome;American Journal of Clinical Pathology;2024-01-11

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