Novel Calcium-Sensing Receptor (CASR) Mutation in a Family with Autosomal Dominant Hypocalcemia Type 1 (ADH1): Genetic Study over Three Generations and Clinical Characteristics

INTRODUCTION: Activating mutation of the calcium-sensing receptor gene (CASR) reduces parathyroid hormone secretion and renal tubular reabsorption of calcium, defined as autosomal dominant hypocalcemia type 1 (ADH1). Patients with ADH1 may present with hypocalcemia-induced seizures. Calcitriol and c...

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Detalles Bibliográficos
Autores principales: Zung, Amnon, Barash, Galia, Banne, Ehud, Levine, Michael A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442457/
https://www.ncbi.nlm.nih.gov/pubmed/36812896
http://dx.doi.org/10.1159/000529833

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10442457/
https://www.ncbi.nlm.nih.gov/pubmed/36812896
http://dx.doi.org/10.1159/000529833

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