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A novel mutation in a case of pseudohypoparathyroidism type Ia

Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is define...

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Autori principali: Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hacettepe University Institute of Child Health 2016-02-01
Serie:The Turkish Journal of Pediatrics
Soggetti:
Albright’s hereditary osteodystrophy
GNAS gene
children
novel mutation
pseudohypoparathyroidism
Accesso online:https://turkjpediatr.org/article/view/1078
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