FAM111A is dispensable for electrolyte homeostasis in mice

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 reported FAM111A...

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Detalles Bibliográficos
Autores principales: Ilenwabor, Barnabas P., Schigt, Heidi, Kompatscher, Andreas, Bos, Caro, Zuidscherwoude, Malou, van der Eerden, Bram C. J., Hoenderop, Joost G. J., de Baaij, Jeroen H. F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205974/
https://www.ncbi.nlm.nih.gov/pubmed/35715480
http://dx.doi.org/10.1038/s41598-022-14054-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205974/
https://www.ncbi.nlm.nih.gov/pubmed/35715480
http://dx.doi.org/10.1038/s41598-022-14054-8

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