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Article

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.

Journal of molecular neuroscience : MN - 1 Dec 2021

Pascolini Giulia, Gaudioso Federica, Passarelli Chiara, Novelli Antonio, Di Giosaffatte Niccolò, Majore Silvia, Grammatico Paola

Abstract excerpt

X-linked intellectual disability can be diagnosed in about 10-12% of intellectually disabled males. In the past, mutations affecting the PAK3 gene (p21 protein-activated kinase 3, MIM#300142) have been associated with a non-syndromic form of X-linked intellectual disability, which has to date been identified in a limited number of families.Since this neurodevelopmental disorder mostly afflicts males, descriptions...

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Identifiers

PMID: 34227036
DOI: 10.1007/s12031-021-01868-w

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Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.PMID 34227036Read ↗

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