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

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-...

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Detalles Bibliográficos
Autores principales: Maini, Ilenia, Caraffi, Stefano G., Peluso, Francesca, Valeri, Lara, Nicoli, Davide, Laurie, Steven, Baldo, Chiara, Zuffardi, Orsetta, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230408/
https://www.ncbi.nlm.nih.gov/pubmed/34200686
http://dx.doi.org/10.3390/genes12060900

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8230408/
https://www.ncbi.nlm.nih.gov/pubmed/34200686
http://dx.doi.org/10.3390/genes12060900

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