Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Abstract Background ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption of chromatin regulation might...

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Hauptverfasser:	Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A. Demmer, Michael A. Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J. Friez, Roger E. Stevenson, Charles E. Schwartz, Bekim Sadikovic
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2019-04-01
Schriftenreihe:	Clinical Epigenetics
Schlagworte:	Epigenetics Episignature DNA methylation ADNP Helsmoortel-Van der Aa syndrome Autism
Online-Zugang:	http://link.springer.com/article/10.1186/s13148-019-0658-5
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