Atsushi Fujita, Hiroyasu Tsukaguchi, Eriko Koshimizu, Hitoshi Nakazato, Kyoko Itoh, Shohei Kuraoka, Yoshihiro Komohara, Masaaki Shiina, Shohei Nakamura, Mika Kitajima, Yoshinori Tsurusaki, Satoko Miyatake, Kazuhiro Ogata, Kazumoto Iijima, Naomichi Matsumoto, Noriko Miyake November 16, 2018

Objective

Galloway–Mowat syndrome (GAMOS) is a neural and renal disorder, characterized by microcephaly, brain anomalies, and early‐onset nephrotic syndrome. Biallelic mutations in WDR73 and the four subunit genes of the KEOPS complex are reported to cause GAMOS. Furthermore, an identical homozygous NUP107 (nucleoporin 107 kDa) mutation was identified in four GAMOS‐like families, although biallelic NUP107 mutations were originally identified in steroid‐resistant nephrotic syndrome.… Read More...

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