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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

BACKGROUND: Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright’s hereditary osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a roun...

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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5834905/
https://ncbi.nlm.nih.gov/pubmed/29499646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0530-z
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