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

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 genes e...

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Detalles Bibliográficos
Autores principales: Hyun, Hye Sun, Kim, Seong Heon, Park, Eujin, Cho, Myung Hyun, Kang, Hee Gyung, Lee, Hyun Soon, Miyake, Noriko, Matsumoto, Naomichi, Tsukaguchi, Hiroyasu, Cheong, Hae Il
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6063015/
https://www.ncbi.nlm.nih.gov/pubmed/30053862
http://dx.doi.org/10.1186/s12881-018-0649-y

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