A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia
Alharby, E., Albalawi, A.M., Nasir, A., Alhijji, S.A., Mahmood, A., Ramzan, K., Abdusamad, F., Aljohani, A., Abdelsalam, O., Eldardear, A., Basit, S.
Published in Clinical genetics (01.12.2017)
Published in Clinical genetics (01.12.2017)
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