Perrault syndrome: Clinical report and retrospective analysis

Abstract Background Perrault syndrome (PRLTS4; OMIM# 615300) is a rare autosomal recessive disorder and only a few cases have been reported worldwide. We report a Chinese female characterized by sensorineural hearing loss and premature ovarian insufficiency. Methods We evaluated audiological, endocr...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Zhaoyu Pan, Hongen Xu, Yongan Tian, Danhua Liu, Huanfei Liu, Ruijun Li, Qian Dou, Bin Zuo, Rongqun Zhai, Wenxue Tang, Wei Lu
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2020-10-01
Colecção:Molecular Genetics & Genomic Medicine
Assuntos:
LARS2
Perrault syndrome
premature ovarian insufficiency
sensorineural hearing loss
Acesso em linha:https://doi.org/10.1002/mgg3.1445
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados