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pro vyhledávání: '"Ananth Sridhar"'
Autor:
Kelly Lauter Roszko, Ananth Sridhar, Ramei Sani-Grosso, William D Kennedy, Iris R Hartley, Karen A Pozo, Rachel I Gafni, Jonathan C Fox, Edward F. Nemeth, Michael T. Collins
Publikováno v:
Journal of the Endocrine Society
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by gain-of-function pathogenic variants in the gene (CASR) encoding the calcium-sensing receptor (CaSR). It is characterized by variable degrees of hypocalcemia