Document Detail


Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.
MedLine Citation:
PMID:  24442824     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of FIHP in a four-generation Greek family, with no identifiable gene mutations. Clinical approach and long-term follow-up are discussed and a narrative review of the genetic basis of this entity has been performed.
Authors:
Nikolaos Pontikides; Spyridon Karras; Athina Kaprara; Panagiotis Anagnostis; Gesthimani Mintziori; Dimitrios G Goulis; Eleni Memi; Gerasimos Krassas
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-1-19
Journal Detail:
Title:  Journal of bone and mineral metabolism     Volume:  -     ISSN:  1435-5604     ISO Abbreviation:  J. Bone Miner. Metab.     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2014-1-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9436705     Medline TA:  J Bone Miner Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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