Abstract Search

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

L Akin , K Rizzoti , LC Gregory , B Corredor , Quesne Stabej P Le , H Williams , F Buonocore , S Mouilleron , V Capra , SM McGlacken-Byrne , GA Martos-Moreno , DN Azmanov , M Kendirci , S Kurtoglu , JP Suntharalingham , C Galichet , S Gustincich , V Tasic , JC Achermann , A Accogli , A Filipovska , A Tuilpakov , M Maghnie , Z Gucev , ZB Gonen , LA Perez-Jurado , I Robinson , R Lovell-Badge , J Argente , MT Dattani

Genet Med. 2022 Feb;24(2):384-397. doi: 10.1016/j.gim.2021.09.019. PMID: 34906446.Brief Summary: This study extends the phenotypes related to pathogenic biallelic RNPC3 variants to cover primary ovarian insufficiency (POI) in combination with the previously associated growth hormone deficiency (GHD).The authors report 15 patients from 9 pedigrees with severe...

0 shares

ESPE Yearbook of Paediatric Endocrinology

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

BiosciAbstracts