A Novel Variant in the CASR Gene c.368T>Cp.(Leu123Ser) in a Case of Hypocalcemia Refractory to Standard Medical Therapy

Introduction: Hypoparathyroidism is characterized by low or inappropriately normal PTH production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of this, caused by heterozygous activating mutations in the CASR gene. Some individuals...

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Detalles Bibliográficos
Autores principales: da Silva, Diana Festas, Lages, Adriana De Sousa, Caetano, Joana Serra, Cardoso, Rita, Dinis, Isabel, Gomes, Leonor, Paiva, Isabel, Mirante, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090064/
http://dx.doi.org/10.1210/jendso/bvab048.1414

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