Qin-Wen Mao

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report.

Pathogenic variants in RNU4-2, encoding for a critical component of the major spliceosome, cause a newly recognized autosomal dominant disorder. Patients with RNU4-2/ReNU syndrome exhibit global developmental delay, microcephaly, dysmorphic features, seizures, hypotonia, and multi-organ involvement. Here, we detailed c...