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Fahr syndrome discovered in adulthood revealing a rare GNAS mutation in pseudohypoparathyroidism type 1a in a Tunisian family
Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP‐1a. In this report, we...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9109644/ https://www.ncbi.nlm.nih.gov/pubmed/35600030 http://dx.doi.org/10.1002/ccr3.5849 |