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Perrault syndrome: Clinical report and retrospective analysis
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, endocrine, an...
Autores principales: | Pan, Zhaoyu, Xu, Hongen, Tian, Yongan, Liu, Danhua, Liu, Huanfei, Li, Ruijun, Dou, Qian, Zuo, Bin, Zhai, Rongqun, Tang, Wenxue, Lu, Wei |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7549576/ https://www.ncbi.nlm.nih.gov/pubmed/32767731 http://dx.doi.org/10.1002/mgg3.1445 |
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