Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder

This case report highlights an adult phenotype of <i>NCKAP1</i>-related NDD with goals to 1.) contribute insight into a rare genetic variant leading to NDD with ASD features and 2.) highlight adult manifestations of <i>NCKAP1-</i>related NDD as a patient in middle adulthood with the condition has not yet been reported.

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Publication Details

Journal
Frontiers in Psychiatry
Published
2025-06-09
DOI
https://doi.org/10.3389/fpsyt.2025.1532982
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
0.00
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Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder

Lia Zitano, Elizabeth VanSickle, Anil Jain, E. Schrader et al.
42 links
Frontiers in Psychiatry
Genetics and Neurodevelopmental Disorders
article

Case Report: An adult with NCKAP1-related neurodevelopmental disorder and autism spectrum disorder

Lia Zitano, Elizabeth VanSickle, Anil Jain, E. Schrader, Timothy Moss
article en

Abstract

This case report highlights an adult phenotype of <i>NCKAP1</i>-related NDD with goals to 1.) contribute insight into a rare genetic variant leading to NDD with ASD features and 2.) highlight adult manifestations of <i>NCKAP1-</i>related NDD as a patient in middle adulthood with the condition has not yet been reported.

Frontiers in PsychiatryVol. 16
Grand Rapids Community College (US), Helen DeVos Children's Hospital (US)
Openalex Percentile: Top 85%
Genetics and Neurodevelopmental Disorders
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