Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review

Zhang, KH; Meng, C; Ma, J; Gao, M; Lv, YQ; Liu, Y; Gai, ZT

Liu, Y (reprint author), Shandong Univ, Qilu Childrens Hosp, Pediat Res Inst, 23976 Jingshi Rd, Jinan 250022, Shandong, Peoples R China.

CLINICAL DYSMORPHOLOGY, 2017; 26 (3): 135

Abstract

Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain......

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