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Article

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.

The American journal of case reports - 20 May 2021

Almutairi Ohood, Almutairi Hessah A, Al Rushood Maysoun

Abstract excerpt

BACKGROUND X-linked intellectual disabilities constitute a group of clinically and genetically heterogeneous disorders that are divided into syndromic and nonsyndromic forms. PAK3 mutations are associated with X-linked nonsyndromic forms of intellectual disability, with the most common clinical features being cognitive deficit, large ears, oral motor hypotonia, and neurobehavioral abnormalities. These mutations...

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Identifiers

PMID: 34014906
DOI: 10.12659/AJCR.930966
PMCID: PMC8147901

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Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report.PMID 34014906Read ↗

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