Perrault syndrome: Clinical report and retrospective analysis

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...

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Bibliographic Details
Main Authors: Zhaoyu Pan, Hongen Xu, Yongan Tian, Danhua Liu, Huanfei Liu, Ruijun Li, Qian Dou, Bin Zuo, Rongqun Zhai, Wenxue Tang, Wei Lu
Format: Article
Language:English
Published: Wiley 2020-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
LARS2
Perrault syndrome
premature ovarian insufficiency
sensorineural hearing loss
Online Access:https://doi.org/10.1002/mgg3.1445

Internet

https://doi.org/10.1002/mgg3.1445

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