Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency

CONTEXT: Primary ovarian insufficiency (POI) is a cause of female infertility. However, the genetic etiology of this disorder remains unknown in most patients with POI. OBJECTIVE: To investigate the genetic etiology of idiopathic POI. PATIENTS AND METHODS: We performed whole-exome sequencing of 11 f...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Franca, Monica M, Han, Xingfa, Funari, Mariana F A, Lerario, Antonio M, Nishi, Mirian Y, Fontenele, Eveline G P, Domenice, Sorahia, Jorge, Alexander A L, Garcia-Galiano, David, Elias, Carol F, Mendonca, Berenice B
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6543511/
https://ncbi.nlm.nih.gov/pubmed/30830215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-02485
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados