Document Detail


Neonatal hypercalcemia due to polymorphisms of the calcium sensing receptor.
MedLine Citation:
PMID:  19694204     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Familial hypocalciuric hypercalcemia (FHH) is known to be caused by heterozygous inactivating mutations of the calcium sensing receptor (CaSR) gene. We report an infant with transient neonatal hypercalcemia who was found to be homozygous for a polymorphism at A986S of the CaSR.
Authors:
Michelle M Jack; Monique L Stone; Roderick Clifton-Bligh
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  22     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-08-21     Completed Date:  2009-09-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  561-3     Citation Subset:  IM    
Affiliation:
Department of Endocrinology, Royal North Shore Hospital, St Leonards, NSW, Australia. mmjack@med.usyd.edu.au
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MeSH Terms
Descriptor/Qualifier:
Calcium / blood
DNA Mutational Analysis
Humans
Hypercalcemia / blood,  genetics*
Infant, Newborn
Infant, Newborn, Diseases / blood,  genetics*
Male
Polymorphism, Genetic*
Receptors, Calcium-Sensing / genetics*
Reference Values
Chemical
Reg. No./Substance:
0/CASR protein, human; 0/Receptors, Calcium-Sensing; 7440-70-2/Calcium

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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