FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child

The identification of monogenic causes in patients with proteinuria has revealed that the encoded proteins functionally participate in distinct cellular tasks and signaling pathways in the slit diaphragms of the glomerular basement membrane. FAT1 is a member of a small family of vertebrate-cadherin-...

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Bibliographic Details
Published in:CEN Case Rep
Main Authors: Rossanti, Rini, Watanabe, Toshio, Nagano, China, Hara, Shigeo, Horinouchi, Tomoko, Yamamura, Tomohiko, Sakakibara, Nana, Ninchoji, Takeshi, Iijima, Kazumoto, Nozu, Kandai
Format: Artigo
Language:Inglês
Published: Springer Singapore 2020
Subjects:
Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7829294/
https://ncbi.nlm.nih.gov/pubmed/32902815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-020-00529-y
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