article_metadata: Liang Chen Mei-Fang Zhao Hui-Wen Deng Min Liao Liang-Liang Fan Qi-Bao Zhong Jun Wang Ke Li Zheng-Hui Wu Jian-Yin Yin
article_metadata: 10.2147/PGPM.S501623
article_metadata: Pharmgenomics Pers Med
article_metadata: 2025 Feb 3:18:47-53.
article_metadata: joubert syndrome ofd1 ciliosis splicing mutation
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39925483/
article_metadata: Case Reports
article_metadata: PMC11804221
article_metadata: 39925483
article_metadata: A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
article_metadata: 2025