Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling

INTRODUCTION: Disease-causing mutations in the protocadherin FAT1 have been recently described both in patients with a glomerulotubular nephropathy and in patients with a syndromic nephropathy. METHODS: We identified 4 patients with FAT1-associated disease, performed clinical and genetic characteriz...

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Detalles Bibliográficos
Autores principales: Fabretti, Francesca, Tschernoster, Nikolai, Erger, Florian, Hedergott, Andrea, Buescher, Anja K., Dafinger, Claudia, Reusch, Bjoern, Köntges, Vincent K., Kohl, Stefan, Bartram, Malte P., Weber, Lutz Thorsten, Thiele, Holger, Altmueller, Janine, Schermer, Bernhard, Beck, Bodo B., Habbig, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Translational Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116753/
https://www.ncbi.nlm.nih.gov/pubmed/34013115
http://dx.doi.org/10.1016/j.ekir.2021.01.023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8116753/
https://www.ncbi.nlm.nih.gov/pubmed/34013115
http://dx.doi.org/10.1016/j.ekir.2021.01.023

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