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Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K, Meng C, Ma J, Gao M, Lv Y, Liu Y, Gai Z. Zhang K, et al. Clin Dysmorphol. 2017 Jul;26(3):135-141. doi: 10.1097/MCD.0000000000000183. Clin Dysmorphol. 2017. PMID: 28505061 Review.
So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. ...
So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 …