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

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

Abstract 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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों: Tatsuki Urakawa, Hidenobu Soejima, Kaori Yamoto, Kaori Hara-Isono, Akie Nakamura, Sayaka Kawashima, Hiromune Narusawa, Rika Kosaki, Yutaka Nishimura, Kazuki Yamazawa, Tetsuo Hattori, Yukako Muramatsu, Takanobu Inoue, Keiko Matsubara, Maki Fukami, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami
स्वरूप: लेख
भाषा:English
प्रकाशित: BMC 2024-10-01
श्रृंखला:Clinical Epigenetics
विषय:
Multi-locus imprinting disturbance
Imprinting disorders
Subcortical maternal complex
MS-MLPA
Pyrosequencing
Array-based methylation analysis
ऑनलाइन पहुंच:https://doi.org/10.1186/s13148-024-01744-5

इंटरनेट

https://doi.org/10.1186/s13148-024-01744-5

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