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    A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

    Published 2025-02-01
    “…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; 2Department of Cell Biology, School of Life Sciences, Central South University, Changsha, 410013, People’s Republic of China; 3Department of Facial Features, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China; 4Department of Child Rehabilitation, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, 410008, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jian-Yin Yin, Department of Anesthesiology, Hunan Provincial Maternal and Child Health Care Hospital. …”
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