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Product

Deficiency of TET3 Leads to a Genome-wide DNA Hypermethylation Episignature in Human Whole Blood

Center:

AR-Partners for Inclusive Communities, UCEDD/LEND

Fiscal Year:

2022

Contact Information:

Renee Holmes
[email protected]
479-871-2836

Product Description:

TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome (BEFAHRS; MIM: 618798), is a recently described neurodevelopmental disorder of the DNA demethylation machinery with a nonspecific phenotype resembling other chromatin-modifying disorders, but inconsistent variant types and inheritance patterns pose diagnostic challenges.

Keyword(s):

TET3

Product/Publication Type(s):

Peer-reviewed publications in scholarly journals Published/In Press

Target Audience:

Professionals

Alternative Format:

Electronic (disc, CD, 508 compliant web posting)

To Obtain Copies (URL or Email):

https://pubmed.ncbi.nlm.nih.gov/34750377/#:~:text=human%20whole%20blood-,Deficiency%20of%20TET3%20leads%20to%20a%20genome%2Dwide%20DNA%20hypermethylation,%2D021%2D00256%2Dy.

COVID-19 Related Data:

N/A