Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib

Hypocalcemia and hyperphosphatemia with low/normal parathyroid hormone (PTH) levels can be observed in hypoparathyroidism (HP), a disorder that may follow an autosomal dominant (AD) or autosomal recessive (AR) mode of inheritance. Similar biochemical changes are also observed in pseudohypoparathyroi...

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Detalhes bibliográficos
Main Authors: Turan, Serap, Akin, Leyla, Akcay, Teoman, Adal, Erdal, Sarikaya, Sevil, Bastepe, Murat, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2990771/
https://ncbi.nlm.nih.gov/pubmed/20538864
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-10-0348
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