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A Novel Germline c.1267T>A MEN1 Mutation in MEN1 Family—from Phenotype to Gene and Back
Primary hyperparathyroidism is a relatively common endocrine disorder, which may be hereditary. This report describes clinical, biochemical, radiographic, and genetic findings, the latter obtained using next generation sequencing (NGS), in three consanguineous patients. Gene panels in NGS consisted...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700542/ https://www.ncbi.nlm.nih.gov/pubmed/33233395 http://dx.doi.org/10.3390/genes11111382 |