Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies

Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies

Summary: Runt-related transcription factor 1 translocated to 1 (RUNX1T1; also known as eight-twenty-one [ETO]) encodes a transcription regulator for hematopoietic genes and is well known for its involvement in hematologic malignancies, particularly acute myeloid leukemia (AML). However, its role in...

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Main Authors: Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown, Jessica Duis, Christine A. Giummo, Jessica Ogawa, Deanna Alexis Carere, Elizabeth A. Normand, Yaping Qian, Kirsty McWalter, Erin Torti
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:HGG Advances
Subjects:
RUNX1T1
clinical exome sequencing
neurodevelopmental disorder
autism
congenital anomalies
candidate gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247724001246
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