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Article

Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention-deficit/hyperactivity disorder.

American journal of medical genetics. Part A - 1 Jan 2025

O'Connell Mia, Harstad Elizabeth, Aites Jennifer, Hayes Katheryn, Arnett Anne B, Scotellaro Julia, Patel Soleha, Brewster Stephanie J, Barbaresi William, Doan Ryan N

Abstract excerpt

Attention-deficit/hyperactivity disorder (ADHD) belongs to a phenotypically broad class of mental health disorders impacting social and cognitive functioning. Despite heritability estimates of 77%-88% and a global prevalence of up to 1 in 20 children, most of the underlying genetic etiology of the disorder remains undiscovered, making it challenging to obtain a clinical molecular genetic diagnosis and to develop...

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Identifiers

PMID: 39162370
DOI: 10.1002/ajmg.a.63851

Genes

SPTBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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