Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome

Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS); these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism spectrum disorder (ASD). Up to 10% of individuals with PTEN(MUT) CS,...

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Udgivet i:Am J Hum Genet
Main Authors: Yehia, Lamis, Ni, Ying, Feng, Fang, Seyfi, Marilyn, Sadler, Tammy, Frazier, Thomas W., Eng, Charis
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6817552/
https://ncbi.nlm.nih.gov/pubmed/31564436
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.09.004
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