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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
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 |
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