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Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

David B. Beck, Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar, Sofia Douzgou, Sivagamy Sithambaram, Trudie Cottrell, Regie Lyn P. Santos‐Cortez, Eloise J. Prijoles, Renee Bend, Boris Keren, Cyril Mignot, Marie‐Christine Nouguès, Katrin Õunap, Tiia Reimand, Sander Pajusalu, Muhammad Zahid, Muhammad Arif Nadeem Saqib, Julien Buratti, Eleanor G. Seaby, Kirsty McWalter, Aida Telegrafi, Dustin Baldridge, Marwan Shinawi, Suzanne M. Leal, G. Bradley Schaefer, Roger E. Stevenson, Siddharth Banka, Roberto Bonasio, Jill A. Fahrner

2020The American Journal of Human Genetics112 citationsDOIOpen Access PDF

Topics & Concepts

Mendelian inheritanceDNA demethylationGeneticsDemethylationDNADNA methylationBiologyGeneGene expressionEpigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency | Litcius