A Case of Familial Isolated Primary Hyperparathyroidism with a Novel Gene Mutation
Endocrinology and Metabolism
;
: 374-377, 2010.
Artículo
en Coreano
| WPRIM
| ID: wpr-186897
ABSTRACT
Familial isolated primary hyperparathyroidism (FIHP) is an autosomal dominant disorder that is characterized by an early stage of either multiple endocrine neoplasia type 1 (MEN1) or hyperparathyroidism-jaw tumor (HPT-JT) syndrome. We report here on a case of a 42-years old woman who was diagnosed with papillary thyroid cancer and primary hyperparathyroidism. Her younger brother also had primary hyperparathyroidism. On the genetic analysis, they were both proven to have a novel frameshift mutation in the MEN1 gene (exon 10).
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Neoplasias de la Tiroides
/
Mutación del Sistema de Lectura
/
Neoplasia Endocrina Múltiple Tipo 1
/
Hermanos
/
Hiperparatiroidismo Primario
Límite:
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Endocrinology and Metabolism
Año:
2010
Tipo del documento:
Artículo
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