A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa
OFD1基因的一种新型致病性剪接突变导致一名男孩患有Joubert综合征，并伴有口面指（趾）畸形、多指（趾）畸形和色素性视网膜炎。
期刊:Pharmacogenomics & Personalized Medicine
影响因子:1.8
doi:10.2147/PGPM.S501623
Chen, Liang; Zhao, Mei-Fang; Deng, Hui-Wen; Liao, Min; Fan, Liang-Liang; Zhong, Qi-Bao; Wang, Jun; Li, Ke; Wu, Zheng-Hui; Yin, Jian-Yin
