CDC73 mutations in young patients with primary hyperparathyroidism: A description of two clinical cases

The article describes two clinical cases of severe primary hyperparathyroidism (PHPT) caused by parathyroid carcinoma in young female patients who underwent molecular genetic testing to rule out the hereditary forms of PHPT. In both patients, heterozygous germline nonsense mutations of tumor suppres...

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Detalles Bibliográficos

Principais autores:	E O Mamedova, N G Mokrysheva, E A Pigarova, E G Przhiyalkovskaya, I A Voronkova, E V Vasilyev, V M Petrov, V A Gorbunova, L Ya Rozhinskaya, Zh E Belaya, A N Tyulpakov
Formato:	Artigo
Idioma:	Russo
Publicado:	"Consilium Medicum" Publishing house 2016-10-01
Series:	Терапевтический архив
Assuntos:	primary hyperparathyroidism hyperparathyroidism-jaw tumor syndrome hpt-jt cdc73 parafibromin parathyroid carcinoma next-generation sequencing ngs
Acceso en liña:	https://ter-arkhiv.ru/0040-3660/article/viewFile/32646/pdf
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