Mutations in core components of the spliceosome are responsible for a group of syndromes
collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia …

Abstract Verheij syndrome [VRJS; OMIM 615583] is a rare autosomal dominant
neurodevelopmental disorder characterized by distinct clinical features, including growth …

PUF60‐related developmental disorder (also referred to as Verheij syndrome), resulting
from haploinsufficiency of PUF60, is associated with multiple congenital anomalies affecting …

Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with
craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental …

PUF60 is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the
U2 small nuclear ribonucleoprotein with primary transcripts. PUF60 deficiency (PD) causes …

Intellectual Disability (ID) is a clinically heterogeneous condition that affects 2–3% of
population worldwide. In recent years, exome sequencing has been a successful strategy for …

Neurodevelopmental disorders arise from combined defects in processes including cell
proliferation, differentiation, migration and commissure formation. The evolutionarily …

Verheij and colleagues were the first to describe two patients harboring de novo overlapping
8q24. 3 microdeletions. 1 The phenotype was characterized by coloboma, cardiac and renal …

Background Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24. 3 that
harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in …

Background Verheij syndrome (VRJS) is a rare microdeletion syndrome of chromosome
8q24. 3 that is characterized by severe growth retardation, microcephaly, vertebral …