De Novo STX16 Deletions: An Infrequent Cause of Pseudohypoparathyroidism Type Ib that Should Be Excluded in Sporadic Cases

CONTEXT: Maternally inherited 3-kb STX16 deletions cause autosomal dominant pseudohypoparathyroidism type Ib (PHP-Ib) characterized by PTH resistance with loss of methylation restricted to the GNAS exon A/B. OBJECTIVE: The objective of the study was to search for the 3-kb STX16 deletion and to estab...

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Detalhes bibliográficos
Main Authors: Turan, Serap, Ignatius, Jaakko, Moilanen, Jukka S., Kuismin, Outi, Stewart, Helen, Mann, Nicholas P., Linglart, Agnès, Bastepe, Murat, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2012
Assuntos:
JCEM Online: Advances in Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3513531/
https://ncbi.nlm.nih.gov/pubmed/23087324
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-2920
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