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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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| Publicado en: | World J Clin Cases |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Baishideng Publishing Group Inc
2020
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| Assuntos: | |
| Acceso en liña: | 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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