The importance of molecular diagnosis in the management of autosomal dominant hypocalcemia type 1 (ADH1): Case report

Ann Endocrinol (Paris). 2023 Feb;84(1):88-89. doi: 10.1016/j.ando.2022.12.001. Epub 2022 Dec 15.

Authors

Jesús M Gómez-Martín¹, Victoria Martínez-Vaello²

Affiliations

¹ Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
² Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain. Electronic address: vmartinezv@salud.madrid.org.

PMID: 36609127
DOI: 10.1016/j.ando.2022.12.001

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Humans
Hypercalciuria
Hypocalcemia* / etiology
Hypocalcemia* / genetics
Hypoparathyroidism* / diagnosis
Hypoparathyroidism* / genetics
Receptors, Calcium-Sensing

Substances

Receptors, Calcium-Sensing

Supplementary concepts

Hypercalciuric Hypocalcemia, Familial