Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

ABSTRACT Background Intellectual developmental disorder with autism and macrocephaly (IDDAM, OMIM #615032) is an autosomal dominant neurodevelopmental disorder characterized primarily by intellectual disability, autism spectrum disorder, macrocephaly, tall stature, gastrointestinal symptoms, and var...

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Główni autorzy:	Yutaka Furuta, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, Thomas A. Cassini, Lynette Rives, Ashley McMinn, Shailee Shah, Amanda C. Peltier, Stephen Layfield, Robin S. Fletcher, Matthew L. Tedder, Raymond J. Louie, Jennifer A. Lee, Jennifer Kerkhof, Jessica Rzasa, Bekim Sadikovic, Abdullah Al Mamun, Jonathan H. Sheehan, Christopher W. Moth, Jens Meiler, Marissa Vawter‐Lee, Paola Maria Mendoza‐Sengco, Jennifer B. Holzen, Sumit Pruthi, John A. Phillips III, Rory J. Tinker, the Undiagnosed Diseases Network
Format:	Artigo
Język:	Inglês
Wydane:	Wiley 2025-12-01
Seria:	Molecular Genetics & Genomic Medicine
Hasła przedmiotowe:	CHD8 epigenetics intellectual developmental disorder with autism and macrocephaly (IDDAM) phenotypic variability
Dostęp online:	https://doi.org/10.1002/mgg3.70165
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