In:
Acta Paediatrica, Wiley, Vol. 103, No. 11 ( 2014-11), p. 1117-1125
Abstract:
Autosomal dominant hypocalcaemia ( ADH ) is caused by activating variants in the calcium‐sensing receptor ( CASR ) gene, but detailed information on the paediatric phenotype is limited. The current paper presents a case of severe ADH and systematically reviews the literature on ADH in children. Conclusion We found that the severity of clinical neurological symptoms was inversely related to serum calcium levels and a high prevalence of renal calcifications and/or basal ganglia calcifications in children with ADH .
Type of Medium:
Online Resource
ISSN:
0803-5253
,
1651-2227
DOI:
10.1111/apa.2014.103.issue-11
Language:
English
Publisher:
Wiley
Publication Date:
2014
detail.hit.zdb_id:
1492629-5
detail.hit.zdb_id:
1501466-6