Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the CASR gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parat...
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Bioscientifica
2018-12-01
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| Σειρά: | Endocrinology, Diabetes & Metabolism Case Reports |
| Διαθέσιμο Online: | https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0114.xml |