Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

BACKGROUND: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband’s daughter. METHODS:...

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Detalles Bibliográficos
Autores principales: Guarnieri, Vito, Seaberg, Raewyn M., Kelly, Catherine, Jean Davidson, M., Raphael, Simon, Shuen, Andrew Y., Baorda, Filomena, Palumbo, Orazio, Scillitani, Alfredo, Hendy, Geoffrey N., Cole, David E. C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5543551/
https://www.ncbi.nlm.nih.gov/pubmed/28774260
http://dx.doi.org/10.1186/s12881-017-0445-0

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