Associated Papers
FAT1 biallelic truncating mutation causes a non-syndromic proteinuria in a child.
Rossanti R et al.
Cen Case Reports, 2021
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi N et al.
Nature Communications, 2019
FAT1 mutations cause a glomerulotubular nephropathy.
Gee HY et al.
Nature Communications, 2016
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