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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Endocrine Society
2017
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| Materias: | |
| 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 |