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

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

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 Medical Col...

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Bibliographic Details
Main Authors: Wei L, Hou L, Ying YQ, Luo XP
Format: Article
Language:English
Published: Dove Medical Press 2022-01-01
Series:Pharmacogenomics and Personalized Medicine
Subjects:
perrault syndrome
twnk gene
chinese
whole-exome sequencing
Online Access:https://www.dovepress.com/a-novel-missense-mutation-in-twnk-gene-causing-perrault-syndrome-type--peer-reviewed-fulltext-article-PGPM

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https://www.dovepress.com/a-novel-missense-mutation-in-twnk-gene-causing-perrault-syndrome-type--peer-reviewed-fulltext-article-PGPM

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