Novel TP53RK variants cause varied clinical features of Galloway–Mowat syndrome without nephrotic syndrome in three unrelated Chinese patients

OBJECTIVES: Galloway–Mowat syndrome-4 (GAMOS4) is a very rare renal-neurological disease caused by TP53RK gene mutations. GAMOS4 is characterized by early-onset nephrotic syndrome, microcephaly, and brain anomalies. To date, only nine GAMOS4 cases with detailed clinical data (caused by eight deleter...

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Detalles Bibliográficos
Autores principales: Chen, Jing, Ye, Gao-Bo, Huang, Jin-Rong, Peng, Min, Gu, Wei-Yue, Xiong, Pin, Zhu, Hong-min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977797/
https://www.ncbi.nlm.nih.gov/pubmed/36873107
http://dx.doi.org/10.3389/fnmol.2023.1116949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9977797/
https://www.ncbi.nlm.nih.gov/pubmed/36873107
http://dx.doi.org/10.3389/fnmol.2023.1116949

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