Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys.

Dineshani HettiarachchiS M V SubasingheG G AnandagodaHetalkumar PanchalPoh-San Lai Vajira H W Dissanayake

Published in: BMC medical genomics (2022)

We report a novel frameshift variant in the PCNT gene and a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II.

Keyphrases

copy number
genome wide
germ cell
genome wide identification
transcription factor
genome wide analysis