Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly
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A. A. Abdulkareem | M. I. Naseer | A. Chaudhary | M. M. Jan | Shatha Alharazy | Mohammad H. Alqahtani | M. Naseer | A. Abdulkareem | S. Alharazy