Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rongqun Zhai"'
Autor:
Haifeng Feng, Hongen Xu, Bei Chen, Shuping Sun, Rongqun Zhai, Beiping Zeng, Wenxue Tang, Wei Lu
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are rare autosomal dominant disorders defined by varying combinations of branchial, otic, and renal anomalies. Here, we characterized the clinical features and genetic etio
Externí odkaz:
https://doaj.org/article/0a8687c19f29430a9fc3ebaeb53b0ada
Autor:
Zhaoyu Pan, Hongen Xu, Yongan Tian, Danhua Liu, Huanfei Liu, Ruijun Li, Qian Dou, Bin Zuo, Rongqun Zhai, Wenxue Tang, Wei Lu
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
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 insuff
Externí odkaz:
https://doaj.org/article/2fa9c7629197441784775a613eacc4bb
Autor:
Huanfei Liu, Rongqun Zhai, Yongan Tian, Wenxue Tang, Lu Wei, Bin Zuo, Hongen Xu, Qingli Li, Haifeng Feng, Ruijun Li, Bei Chen, Danhua Liu
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2020 (2020)
BioMed Research International, Vol 2020 (2020)
Objective. To analyze the phenotypic features and pathogenic variants of three unrelated families presenting with nonsyndromic auditory neuropathy spectrum disorder (ANSD). Methods. Three recruited families that were affected by congenital deafness w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ef5bf00fa957b724a45eef5704faca3
https://doi.org/10.1155/2020/8843539
https://doi.org/10.1155/2020/8843539