FAM111A is dispensable for electrolyte homeostasis in mice

Abstract Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reporte...

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Bibliographic Details
Main Authors: Barnabas P. Ilenwabor, Heidi Schigt, Andreas Kompatscher, Caro Bos, Malou Zuidscherwoude, Bram C. J. van der Eerden, Joost G. J. Hoenderop, Jeroen H. F. de Baaij
Format: Article
Language:English
Published: Nature Portfolio 2022-06-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-14054-8