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Article

Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errors.

American journal of medical genetics. Part A - 1 Dec 2024

Patel Rahi, Park Agnes Y, Marchi Elaine, Gropman Andrea L, Whitehead Matthew T, Lyon Gholson J

Abstract excerpt

NAA10-related (Ogden syndrome) and NAA15-related neurodevelopmental syndrome are known to present with varying degrees of intellectual disability, hypotonia, congenital cardiac abnormalities, seizures, and delayed speech and motor development. However, the ophthalmic manifestations of NAA10 and NAA15 variants are not yet fully characterized or understood. This study analyzed the prevalence of six ophthalmic...

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Source

Identifiers

PMID: 39012200
DOI: 10.1002/ajmg.a.63821

Genes

NAA10
NAA15

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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