A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia
E. Alharby; A.M. Albalawi; A. Nasir; S.A. Alhijji; A. Mahmood; K. Ramzan; F. Abdusamad; A. Aljohani; O. Abdelsalam; A. Eldardear; S. Basit
Author Information: Center for Genetics and Inherited Diseases
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