Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion

CONTEXT: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one-third of patients, the disease is caused by de novo mutation i...

Descripción completa

Detalles Bibliográficos
Autores principales: Stelmachowska-Banaś, Maria, Zgliczyński, Wojciech, Tutka, Piotr, Carney, J. Aidan, Korbonits, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673275/
https://www.ncbi.nlm.nih.gov/pubmed/28973408
http://dx.doi.org/10.1210/jc.2017-01045

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673275/
https://www.ncbi.nlm.nih.gov/pubmed/28973408
http://dx.doi.org/10.1210/jc.2017-01045

Ejemplares similares