Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

<p>Purpose Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether...

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التفاصيل البيبلوغرافية
المؤلف الرئيسي: Richard H. van Jaarsveld (15112408) (author)
مؤلفون آخرون: Jack Reilly (8286330) (author), Marie-Claire Cornips (18877621) (author), Michael A. Hadders (18877624) (author), Emanuele Agolini (9577349) (author), Priyanka Ahimaz (18877627) (author), Kwame Anyane-Yeboa (564954) (author), Severine Audebert Bellanger (18877630) (author), Ellen van Binsbergen (8084591) (author), Marie-Jose van den Boogaard (18877633) (author), Elise Brischoux-Boucher (14302504) (author), Raymond C. Caylor (18877636) (author), Andrea Ciolfi (4021622) (author), Ton A.J. van Essen (18877639) (author), Paolo Fontana (83190) (author), Saskia Hopman (15005912) (author), Maria Iascone (3597656) (author), Margaret M. Javier (18877642) (author), Erik-Jan Kamsteeg (12888104) (author), Jennifer Kerkhof (6643232) (author), Jun Kido (7144061) (author), Hyung-Goo Kim (728597) (author), Tjitske Kleefstra (4534954) (author), Fortunato Lonardo (15078286) (author), Abbe Lai (18877645) (author), Dorit Lev (5785154) (author), Michael A. Levy (11125767) (author), M.E. Suzanne Lewis (18877648) (author), Angie Lichty (18877651) (author), Marcel M.A.M. Mannens (18877654) (author), Naomichi Matsumoto (459422) (author), Idit Maya (18877657) (author), Haley McConkey (14022723) (author), Andre Megarbane (3485465) (author), Vincent Michaud (437274) (author), Evelina Miele (1307871) (author), Marcello Niceta (4021628) (author), Antonio Novelli (3568964) (author), Roberta Onesimo (10025895) (author), Rolph Pfundt (249799) (author), Bernt Popp (512553) (author), Eloise Prijoles (6643214) (author), Raissa Relator (14022699) (author), Sylvia Redon (11130016) (author), Dmitrijs Rots (8539338) (author), Karen Rouault (459694) (author), Ken Saida (790990) (author), Jolanda Schieving (15101052) (author), Marco Tartaglia (4021631) (author), Romano Tenconi (730430) (author), Kevin Uguen (11130019) (author), Nienke Verbeek (3698341) (author), Christopher A. Walsh (8667276) (author), Keren Yosovich (5785157) (author), Christopher J. Yuskaitis (11945007) (author), Giuseppe Zampino (9456131) (author), Bekim Sadikovic (56562) (author), Mariëlle Alders (7708352) (author), Renske Oegema (4047010) (author)
منشور في: 2023
الموضوعات:
Biological sciences
Genetics
Biomedical and clinical sciences
Clinical sciences
Neurosciences
Human Genetics
KDM2B
MDEMs
Methylation signatures
Neurodevelopmental disorders
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