Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria

Biallelic loss‐of‐function mutations in the centrosomal pericentrin gene ( PCNT ) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a high risk of cerebral vascular anomalies. Here, we report two siblings with MOPDII and attenuated growth restriction, and pachygyria. Compound...