New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

• मुख्य लेखकों: Eric Chater-Diehl (लेखक), Resham Ejaz (लेखक), Cheryl Cytrynbaum (लेखक), Michelle T. Siu (लेखक), Andrei Turinsky (लेखक), Sanaa Choufani (लेखक), Sarah J. Goodman (लेखक), Omar Abdul-Rahman (लेखक), Melanie Bedford (लेखक), Naghmeh Dorrani (लेखक), Kendra Engleman (लेखक), Josue Flores-Daboub (लेखक), David Genevieve (लेखक), Roberto Mendoza-Londono (लेखक), Wendy Meschino (लेखक), Laurence Perrin (लेखक), Nicole Safina (लेखक), Sharron Townshend (लेखक), Stephen W. Scherer (लेखक), Evdokia Anagnostou (लेखक), Amelie Piton (लेखक), Matthew Deardorff (लेखक), Michael Brudno (लेखक), David Chitayat (लेखक), Rosanna Weksberg (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associa...