A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C.
Huynh Cong E, et al. Among authors: antignac c.
J Am Soc Nephrol. 2014 Nov;25(11):2435-43. doi: 10.1681/ASN.2013101126. Epub 2014 May 29.
J Am Soc Nephrol. 2014.
PMID: 24876116
Free PMC article.