Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China

• Главные авторы: Liang Ying (Автор), Wang Hui (Автор), FuQian (Автор), Zhou Nan (Автор), Jiang Yeping (Автор), Mi Lan (Автор)
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• Опубликовано: BMC, 2022-07-01T00:00:00Z.
• Предметы: article
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Abstract Background Joubert Syndrome (JS) is a rare genetic developmental disorder. We are aiming for increasing awareness of this disease especially kidney involvement in children with JS. Methods Clinical and genetic data of 17 cases of JS in Beijing children's hospital in the past 21 years w...