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Article

Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2021

Movaghar Arezoo, Page David, Scholze Danielle, Hong Jinkuk, DaWalt Leann Smith, Kuusisto Finn, Stewart Ron, Brilliant Murray, Mailick Marsha

Abstract excerpt

PURPOSE: Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked disorder on the health of affected individuals is unclear and the prevalence of co-occurring conditions is...

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Identifiers

PMID: 33772223
DOI: 10.1038/s41436-021-01144-7
PMCID: PMC8257481

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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