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Article

Comprehensive molecular and clinical findings in 29 patients with multi-locus imprinting disturbance.

Clinical epigenetics - 5 Oct 2024

Urakawa Tatsuki, Soejima Hidenobu, Yamoto Kaori, Hara-Isono Kaori, Nakamura Akie, Kawashima Sayaka, Narusawa Hiromune, Kosaki Rika, Nishimura Yutaka, Yamazawa Kazuki, Hattori Tetsuo, Muramatsu Yukako, Inoue Takanobu, Matsubara Keiko, Fukami Maki, Saitoh Shinji, Ogata Tsutomu, Kagami Masayo

Abstract excerpt

BACKGROUND: Multi-locus imprinting disturbance (MLID) with methylation defects in various differentially methylated regions (DMRs) has recently been identified in approximately 150 cases with imprinting disorders (IDs), and deleterious variants have been found in genes related to methylation maintenance of DMRs, such as those encoding proteins constructing the subcortical maternal complex (SCMC), in a small...

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Identifiers

PMID: 39369220
DOI: 10.1186/s13148-024-01744-5
PMCID: PMC11452994

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