Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay
The role of lysine methyltransferases (KMTs) and demethylases (KDMs) in the regulation of chromatin modification is well-established. Recently, deleterious heterozygous variants in KMT5B were implicated in individuals with intellectual disability (ID) and/or autism spectrum disorder. We describe thr...
Main Authors: | Aviva Eliyahu, Ortal Barel, Lior Greenbaum, Gal Zaks Hoffer, Yael Goldberg, Annick Raas-Rothschild, Amihood Singer, Ifat Bar-Joseph, Vered Kunik, Elisheva Javasky, Orna Staretz-Chacham, Naomi Pode-Shakked, Lily Bazak, Noa Ruhrman-Shahar, Elon Pras, Moshe Frydman, Mordechai Shohat, Ben Pode-Shakked |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-03-01
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Series: | Frontiers in Pediatrics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.844845/full |
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