Associated Papers
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F et al.
Genes, 2021
34202629 (PubMed )
Supplement: genes-12-00962-s001.zip › genes-1252885-supplementary › Table_S4_-_Biallelic_FAT1_variants_20210611.xlsx › Foglio1
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
30862798 (PubMed )
Supplement: 41467_2019_8547_MOESM1_ESM.pdf
FAT1 mutations cause a glomerulotubular nephropathy.
Gee HY et al.
Nature Communications, 2016
Select a paper to view details