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Autosomal Dominant Hypocalcemia Type 1: A Systematic Review

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the calcium‐sensing receptor gene (CASR). Inherited or de novo activating variants of the CASR alter the set point for extracellular calcium, resulting in inadequate parathyroid hormone (...

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Detalles Bibliográficos
Autores principales: Roszko, Kelly L, Stapleton Smith, Lyndsay M, Sridhar, Ananth V, Roberts, Mary Scott, Hartley, Iris R, Gafni, Rachel I, Collins, Michael T, Fox, Jonathan C, Nemeth, Edward F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9805030/
https://www.ncbi.nlm.nih.gov/pubmed/35879818
http://dx.doi.org/10.1002/jbmr.4659