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A family with autosomal dominant hypocalcaemia with hypercalciuria (ADHH): mutational analysis, phenotypic variability and treatment challenges.

Abstract:

Autosomal dominant hypocalcaemia with hypercalciuria (ADHH) is an intriguing syndrome, in which activating mutations of the calcium sensing receptor (CaSR) have recently been recognised. We describe a kindred with seven affected individuals across three generations, including patients affected in the first decade of life. Age at diagnosis varied from birth to 50 years. Affected members had hypocalcaemia (1.53-1.85 mmol/l), hypercalciuria, low but detectable parathyroid hormone (PTH) and hypom...

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Publication status:
Published

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Publisher copy:
10.1515/jpem.2005.18.7.689

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
Journal:
Journal of pediatric endocrinology and metabolism : JPEM
Volume:
18
Issue:
7
Pages:
689-699
Publication date:
2005-07-05
DOI:
EISSN:
2191-0251
ISSN:
0334-018X
URN:
uuid:5e8f6493-fa6f-46d9-a860-de5a6827cb5c
Source identifiers:
15742
Local pid:
pubs:15742

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