OR24-6 Non-syndromic Cushing's Disease Due To CDKN1B Mutations: Novel Mutations And Phenotypic Features In A Large Pediatric Cohort

Introduction: Germline loss-of-function mutations in the CDKN1B gene underlie multiple endocrine neoplasia type 4 (MEN4), an infrequent and clinically heterogeneous autosomal dominant syndrome with incomplete penetrance. MEN4 encompasses various neuroendocrine tumors and other neoplasms, including p...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Hernández-Ramírez, Laura, Chasseloup, Fanny, Faucz, Fabio, Lodish, Maya, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise, Mills, James, Stratakis, Constantine
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2019
Assuntos:
Neuroendocrinology and Pituitary
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554810/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR24-6
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