Any modality of renal replacement therapy can be a treatment option for Joubert syndrome

Abstract Joubert syndrome (JS) is an inherited ciliopathy characterized by a distinctive cerebellar and brain stem malformation which is known as the “molar tooth sign” on axial brain images, hypotonia, and developmental delay. Approximately 25–30% of patients with JS have kidney disease and many of...

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Autores principales: Yoko Takagi, Kenichiro Miura, Tomoo Yabuuchi, Naoto Kaneko, Kiyonobu Ishizuka, Mariko Takei, Chikage Yajima, Yuka Ikeuchi, Yasuko Kobayashi, Takumi Takizawa, Masataka Hisano, Yoshinori Tsurusaki, Naomichi Matsumoto, Motoshi Hattori
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/1156977798244614b9e99bf1adf4235e
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