Article
A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Clinical genetics - 1 Dec 2017
Alharby E, Albalawi A M, Nasir A, Alhijji S A, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, Basit S
Abstract excerpt
PAX binding protein 1 (PAXBP1) is an adaptor protein linking the transcription factor PAX3 and PAX7 to the histone methylation machinery. PAXBP1 is a nuclear protein and its high expression is known in brain cerebellar hemisphere and cerebellum. Moreover, it is also found in abundance in muscle precursor cells that are involved in myogenesis and skeletal muscles formation. Whole genome SNP genotyping and exome...
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