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Variants in Chromatin Remodeling Genes Are Involved in Patients with Chiari Malformation Type 1.

Ferruccio Romano,Maria Cerminara,Patrizia De Marco,Michele Iacomino,Marco Di Duca,Domenico Tortora,Marco Pavanello,Gianluca Piatelli,Marcello Scala,Federico Zara,Aldamaria Puliti,Valeria Capra

BIRTH DEFECTS RESEARCH（2025）

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关键词
autosomal-dominant mechanism,Chiari malformation type 1,chromatin remodeling genes,exome sequencing (ES) analysis,HP1BP3,KMT2A,SETD2
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