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Neonatal severe hyperparathyroidism secondary to a novel homozygous CASR gene mutation
Neonatal severe hyperparathyroidism (NSHPT) is a rare autosomal recessive disease. Children present within the first 6 months of life and more commonly in the first few weeks. Common presentation is poor feeding, polyuria, dehydration, lethargy, failure to thrive, hypotonia, gastrointestinal dysmoti...
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| Publicado en: | Clin Cases Miner Bone Metab |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
CIC Edizioni Internazionali
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5762229/ https://ncbi.nlm.nih.gov/pubmed/29354167 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11138/ccmbm/2017.14.3.354 |
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