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Genetic Screening of Patients With Inherited Fanconi Syndrome

Introduction: The clinical and genetic spectrum of inherited Fanconi renotubular syndrome (FRTS) remains incompletely characterized, and the role of recently recognized genes such as GATM has not been systematically assessed. Methods: This retrospective study included 20 families with FRTS (14 pedia...

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Auteurs principaux: Yuta Inoki, Nana Sakakibara, Asahi Yamamoto, Yuka Kimura, Shuhei Aoyama, Atsushi Kondo, Hiroaki Hanafusa, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Shingo Ishimori, Shinya Asato, Akihiro Fukuda, Shun Hashimoto, Tsubasa Murase, Koji Nagatani, Izaya Nakaya, Takayuki Okamoto, Shunsuke Takayanagi, Hiroshi Tanaka, Koji Tsugawa, Tatsuo Tsukamoto, Takeshi Yamada, Masaki Yamamoto, Kandai Nozu
Format: Artigo
Langue:Inglês
Publié: Elsevier 2026-07-01
Collection:Kidney International Reports
Sujets:
Fanconi syndrome
genetic kidney disease
GATM
targeted panel sequence
Accès en ligne:http://www.sciencedirect.com/science/article/pii/S2468024926028081
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