A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report

• Main Authors: Hye Sun Hyun (Author), Seong Heon Kim (Author), Eujin Park (Author), Myung Hyun Cho (Author), Hee Gyung Kang (Author), Hyun Soon Lee (Author), Noriko Miyake (Author), Naomichi Matsumoto (Author), Hiroyasu Tsukaguchi (Author), Hae Il Cheong (Author)
• Format: Book
• Published: BMC, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Galloway-Mowat syndrome (GAMOS) is a rare hereditary renal-neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the...