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A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Clin Genet. 2017 Dec;92(6):579-586. doi: 10.1111/cge.13051. Epub 2017 Sep 15.
Clin Genet. 2017.
PMID: 28542722
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly.
Basit S, Al-Harbi KM, Alhijji SA, Albalawi AM, Alharby E, Eldardear A, Samman MI.
Basit S, et al. Among authors: alhijji sa.
Hum Genet. 2016 Oct;135(10):1199-207. doi: 10.1007/s00439-016-1724-0. Epub 2016 Aug 12.
Hum Genet. 2016.
PMID: 27519304
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