A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa

Liang Chen,1,* Mei-Fang Zhao,2,* Hui-Wen Deng,1 Min Liao,1 Liang-Liang Fan,2 Qi-Bao Zhong,3 Jun Wang,1 Ke Li,1 Zheng-Hui Wu,4,* Jian-Yin Yin1 1Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China;...

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Bibliographic Details
Main Authors: Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY
Format: Article
Language:English
Published: Dove Medical Press 2025-02-01
Series:Pharmacogenomics and Personalized Medicine
Subjects:
joubert syndrome
ofd1
splicing mutation
ciliosis
Online Access:https://www.dovepress.com/a-novel-pathogenic-splicing-mutation-of-ofd1-is-responsible-for-a-boy--peer-reviewed-fulltext-article-PGPM
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