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Perrault syndrome: Clinical report and retrospective analysis.
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-08-07 , DOI: 10.1002/mgg3.1445 Zhaoyu Pan 1 , Hongen Xu 2 , Yongan Tian 3, 4 , Danhua Liu 2 , Huanfei Liu 2 , Ruijun Li 2 , Qian Dou 5 , Bin Zuo 1 , Rongqun Zhai 1 , Wenxue Tang 2, 4, 6 , Wei Lu 1
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2020-08-07 , DOI: 10.1002/mgg3.1445 Zhaoyu Pan 1 , Hongen Xu 2 , Yongan Tian 3, 4 , Danhua Liu 2 , Huanfei Liu 2 , Ruijun Li 2 , Qian Dou 5 , Bin Zuo 1 , Rongqun Zhai 1 , Wenxue Tang 2, 4, 6 , Wei Lu 1
Affiliation
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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.
更新日期：2020-10-12
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