Novel Heterozygous Calcium Sensing Receptor (CASR) Genetic Variant in Child with Unique Phenotype: Hypocalcemia, Mandibular Hypoplasia, Renal Cysts and Type E Brachydactyly

Background: There are over 230 disease-causing variants in the calcium-sensing receptor gene (CaSR). Gain-of-function missense mutations in CaSR cause Autosomal Dominant Hypocalcemia (ADH) characterized by hypocalcemia (hCa), hypoparathyroidism (hPTH), and hypercalciuria. Patients with ADH are sensi...

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Detalles Bibliográficos
Autores principales: Legro, Nicole, Kees-Folts, Deborah, Ladda, Roger, Huerta-Saenz, Lina
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/PMC8090173/
http://dx.doi.org/10.1210/jendso/bvab048.1432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8090173/
http://dx.doi.org/10.1210/jendso/bvab048.1432

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