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Activating calcium sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
MedLine Citation:
PMID:  25039540     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
AIM: 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. This article is protected by copyright. All rights reserved.
Authors:
Signe B Thim; Niels H Birkebaek; Peter H Nissen; Christian Høst
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-7-10
Journal Detail:
Title:  Acta paediatrica (Oslo, Norway : 1992)     Volume:  -     ISSN:  1651-2227     ISO Abbreviation:  Acta Paediatr.     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-7-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9205968     Medline TA:  Acta Paediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
This article is protected by copyright. All rights reserved.
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