A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature

• প্রধান লেখক: Wei L (লেখক), Hou L (লেখক), Ying YQ (লেখক), Luo XP (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Dove Medical Press, 2022-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Lan Wei, Ling Hou, Yan-Qin Ying, Xiao-Ping Luo Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei, 430030, People's Republic of ChinaCorrespondence: Yan-Qin YingDepartment of Pediatrics, Tongji Hospital, Tongji Medica...