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Article

Clinical Manifestations in a Girl with NAA10-Related Syndrome and Genotype-Phenotype Correlation in Females.

Genes - 10 Jun 2021

Maini Ilenia, Caraffi Stefano G, Peluso Francesca, Valeri Lara, Nicoli Davide, Laurie Steven, Baldo Chiara, Zuffardi Orsetta, Garavelli Livia

Abstract excerpt

Since 2011, eight males with an X-linked recessive disorder (Ogden syndrome, MIM #300855) associated with the same missense variant p.(Ser37Pro) in the NAA10 gene have been described. After the advent of whole exome sequencing, many NAA10 variants have been reported as causative of syndromic or non-syndromic intellectual disability in both males and females. The NAA10 gene lies in the Xq28 region and encodes the...

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Adolescent
Craniofacial Abnormalities
Developmental Disabilities
Genetic Diseases, X-Linked
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Intellectual Disability

Mutation, Missense

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Identifiers

PMID: 34200686
DOI: 10.3390/genes12060900
PMCID: PMC8230408

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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