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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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6063015/
https://ncbi.nlm.nih.gov/pubmed/30053862
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0649-y
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