Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.

Citation:
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, …… Filipovska A, Tuilpakov A, et al. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Gen Med. 2022;24(2):384-97.

Keywords:
Growth hormone deficiency; Hypopituitarism; Minor spliceosome; Primary ovarian insufficiency; U12-type spliceosome

Abstract:
We aimed to investigate the molecular basis underlying a novel phenotype including hypopituitarism associated with primary ovarian insufficiency.