BCS1L mutations produce Fanconi syndrome with developmental disability

Fanconi syndrome is a functional disorder of the proximal tubule, characterized by pan-aminoaciduria, glucosuria, hypophosphatemia, and metabolic acidosis. With the advancements in gene analysis technologies, several causative genes are identified for Fanconi syndrome. Several mitochondrial diseases...

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Veröffentlicht in:	Journal of human genetics 2022-03, Vol.67 (3), p.143-148
Hauptverfasser:	Kanako, Kojima-Ishii, Sakakibara, Nana, Murayama, Kei, Nagatani, Koji, Murata, Satoshi, Otake, Akira, Koga, Yasutoshi, Suzuki, Hisato, Uehara, Tomoko, Kosaki, Kenjiro, Yoshiura, Koh-Ichiro, Mishima, Hiroyuki, Ichimiya, Yuko, Mushimoto, Yuichi, Horinouchi, Tomoko, Nagano, China, Yamamura, Tomohiko, Iijima, Kazumoto, Nozu, Kandai
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis ATPases Associated with Diverse Cellular Activities - genetics Cardiomyopathy Child Developmental disabilities Developmental Disabilities - genetics Electron transport Electron Transport Complex III - genetics Fanconi syndrome Fanconi Syndrome - genetics Humans Hypophosphatemia Metabolic acidosis Mitochondria Mitochondrial Diseases - genetics Mutation Pathogenicity
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