Article
A novel mutation of the RPGRIP1L gene in a Chinese boy with Joubert syndrome with oculorenal involvement.
BMC pediatrics - 23 Nov 2023
Li Qian, Liu Qianying, Liu Suwen, Yu Lichun, Yang Zhenle, Wang Cong, Wang Jing, Sun Shuzhen
Abstract excerpt
BACKGROUND: Joubert syndrome (JS) is a rare genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the "molar tooth sign", and variable organ involvement (such as eye, kidney, liver, and skeleton). Here, we present a case of JS in a Chinese boy. CASE PRESENTATION: An 11-year-old Chinese boy presented with neonatal asphyxiation and hypoxia, strabismus,...
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