Genet Med 2022 02 30;24(2):384-397. Epub 2021 Nov 30.
Genetics and Genomic Medicine Research and Teaching Department, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom; South Australian Health and Medical Research Institute (SAHMRI), The University of Adelaide, Adelaide, South Australia, Australia; Department of Paediatric Endocrinology, Great Ormond Street Hospital for Children, London, United Kingdom. Electronic address:
Purpose: We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.
Methods: We used next-generation sequencing to identify variants in all pedigrees. Expression of Rnpc3/RNPC3 was analyzed by in situ hybridization on murine/human embryonic sections. Read More