Publications:

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

Kidney International Reports

Fabretti, Francesca F; Tschernoster, Nikolai N; Erger, Florian F; Hedergott, Andrea A; Buescher, Anja K AK; Dafinger, Claudia C; Reusch, Bjoern B; Köntges, Vincent K VK; Kohl, Stefan S; Bartram, Malte P MP; Weber, Lutz Thorsten LT; Thiele, Holger H; Altmueller, Janine J; Schermer, Bernhard B; Beck, Bodo B BB; Habbig, Sandra S

Publication Date: 2021-05

Variant appearance in text: FAT1: T867Ifs*4

PubMed Link: 34013115

Variant Present in the following documents:

• main.pdf

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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Nature Communications

Lahrouchi, Najim N; George, Aman A; Ratbi, Ilham I; Schneider, Ronen R; Elalaoui, Siham C SC; Moosa, Shahida S; Bharti, Sanita S; Sharma, Ruchi R; Abu-Asab, Mones M; Onojafe, Felix F; Adadi, Najlae N; Lodder, Elisabeth M EM; Laarabi, Fatima-Zahra FZ; Lamsyah, Yassine Y; Elorch, Hamza H; Chebbar, Imane I; Postma, Alex V AV; Lougaris, Vassilios V; Plebani, Alessandro A; Altmueller, Janine J; Kyrieleis, Henriette H; Meiner, Vardiella V; McNeill, Helen H; Bharti, Kapil K; Lyonnet, Stanislas S; Wollnik, Bernd B; Henrion-Caude, Alexandra A; Berraho, Amina A; Hildebrandt, Friedhelm F; Bezzina, Connie R CR; Brooks, Brian P BP; Sefiani, Abdelaziz A

Publication Date: 2019-03-12

Variant appearance in text: FAT1: 2600_2601delCA; T867IfsX4

PubMed Link: 30862798

Variant Present in the following documents:

• Main text
• 41467_2019_Article_8547.pdf

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