Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

Ogden syndrome is a rare lethal X‐linked recessive disorder caused by a recurrent missense variant (Ser37Pro) in the NAA10 gene, encoding the catalytic subunit of the N‐terminal acetyltransferase A complex (NatA). So far eight boys of two different families have been described in the literature, all...

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Detalles Bibliográficos
Autores principales: Gogoll, Laura, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Baumer, Alessandra, Gerth‐Kahlert, Christina, Tutschek, Boris, Rauch, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361982/
https://www.ncbi.nlm.nih.gov/pubmed/34075687
http://dx.doi.org/10.1002/ajmg.a.62351

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8361982/
https://www.ncbi.nlm.nih.gov/pubmed/34075687
http://dx.doi.org/10.1002/ajmg.a.62351

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