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...

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Detalles Bibliográficos
Autores principales: Gierlikowski, Wojciech, Skwarek-Szewczyk, Agata, Popow, Michał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7700542/
https://www.ncbi.nlm.nih.gov/pubmed/33233395
http://dx.doi.org/10.3390/genes11111382

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