Article

Phenotypic characterization of five children with PACS1-NDD: Longitudinal insights into development, behavior and brain

2025-09-29

Abstract excerpt

<title>Abstract</title> <p>PACS1 neurodevelopmental disorder (PACS1-NDD), also known as Schuurs-Hoeijmakers syndrome, is a rare genetic condition caused by a recurrent de novo mutation in the <italic>PACS1 </italic>gene. In addition to somatic and clinical features, autistic traits have been reported, although systematic and longitudinal assessments are lacking. We followed five children (3 females) with genetica...

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Literature Corpus work: ffc9be7f-8678-5aee-b4f3-1da9211fea59
DOI: 10.21203/rs.3.rs-7720521/v1

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