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

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 <i>NAA10</i> gene have been described. After the advent of whole exome sequencing, many <i>NAA10</i> variants have been repo...

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Bibliographic Details
Main Authors: Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
<i>NAA10</i>-related syndrome
X-linked disorder
syndromic and non-syndromic intellectual disability
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/12/6/900

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https://www.mdpi.com/2073-4425/12/6/900

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