Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay

• Main Authors: Aviva Eliyahu (Author), Ortal Barel (Author), Lior Greenbaum (Author), Gal Zaks Hoffer (Author), Yael Goldberg (Author), Annick Raas-Rothschild (Author), Amihood Singer (Author), Ifat Bar-Joseph (Author), Vered Kunik (Author), Elisheva Javasky (Author), Orna Staretz-Chacham (Author), Naomi Pode-Shakked (Author), Lily Bazak (Author), Noa Ruhrman-Shahar (Author), Elon Pras (Author), Moshe Frydman (Author), Mordechai Shohat (Author), Ben Pode-Shakked (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...