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Cutaneous nodules and a novel GNAS mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature

BACKGROUND: Pseudohypoparathyroidism type Ia (PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature w...

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Pubblicato in:World J Clin Cases
Autori principali: Li, Yun-Ling, Han, Ting, Hong, Fang
Natura: Artigo
Lingua:Inglês
Pubblicazione: Baishideng Publishing Group Inc 2020
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7031840/
https://ncbi.nlm.nih.gov/pubmed/32110670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12998/wjcc.v8.i3.587
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