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NAA10-related syndrome

1 Jul 2018

Abstract excerpt

NAA10-related syndrome is an X-linked condition with a broad spectrum of findings ranging from a severe phenotype in males with p.Ser37Pro in NAA10, originally described as Ogden syndrome, to the milder NAA10-related intellectual disability found with different variants in both males and females. Although developmental impairments/intellectual disability may be the presenting feature (and in some cases the only...

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PMID: 30054457
DOI: 10.1038/s12276-018-0098-x

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