Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Pediatrics
Subjects:
KMT5B
intellectual disability
developmental delay
de novo
macrocephaly
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.844845/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.844845/full

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