Ontology highlight
ABSTRACT:
SUBMITTER: Somashekar PH
PROVIDER: S-EPMC9990822 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Somashekar Puneeth H PH Kaur Parneet P Stephen Joshi J Guleria Vishal Singh VS Kadavigere Rajagopal R Girisha Katta Mohan KM Bielas Stephanie S Upadhyai Priyanka P Shukla Anju A
Clinical genetics 20210128 4
RNA exosome is a highly conserved ribonuclease complex essential for RNA processing and degradation. Bi-allelic variants in exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively, while those in EXOSC2 cause short stature, hearing loss, retinitis pigmentosa and distinctive facies. We ascertained an 8-months-old male with developmental delay, microcephaly, subtle dysmorphism and hypotonia. Pontocerebellar hypopl ...[more]