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Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant

Uda, D; Kondo, H; Tanda, K; Kizaki, Z; Nishida, M; Dai, H; Itoh, M

Kondo, H (通讯作者),Japanese Red Cross Kyoto Daiichi Hosp, Dept Pediat & Neonatol, Higashiyama Ku, 749 Honmachi, Kyoto, Kyoto 6050981, Japan.

NEUROPEDIATRICS, 2023; 54 (3): 217

Abstract

Joubert syndrome (JS) is a genetic neurodevelopmental disorder characterized by lower brainstem dysplasia and cerebellar vermis agenesis termed molar ......

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