OBO ID: DOID:2590

Citations

(1 total)

Term: familial nephrotic syndrome

Dorval, G., Kuzmuk, V., Gribouval, O., Welsh, G.I., Bierzynska, A., Schmitt, A., Miserey-Lenkei, S., Koziell, A., Haq, S., Benmerah, A., Mollet, G., Boyer, O., Saleem, M.A., Antignac, C. (2019) TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. American journal of human genetics. 104(2):348-355