Literature DB >> 27753653

Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.

Ashley Cartwright1, Kath Smith, Meena Balasubramanian.   

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Year:  2017        PMID： 27753653     DOI： 10.1097/MCD.0000000000000154

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  2 in total

1.  Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

Authors:  Yanyan Qian; Bingbing Wu; Yulan Lu; Wenhao Zhou; Sujuan Wang; Huijun Wang
Journal:  BMC Med Genet       Date:  2020-02-12       Impact factor: 2.103

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

Authors:  Giulia Pascolini; Federica Gaudioso; Chiara Passarelli; Antonio Novelli; Niccolò Di Giosaffatte; Silvia Majore; Paola Grammatico
Journal:  J Mol Neurosci       Date:  2021-07-05       Impact factor: 3.444
  2 in total

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