Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing’s Disease With or Without an MEN4 Phenotype

CONTEXT: Germline loss-of-function CDKN1B gene variants cause the autosomal dominant syndrome of multiple endocrine neoplasia type 4 (MEN4). Even though pituitary neuroendocrine tumors are a well-known component of the syndrome, only 2 cases of Cushing’s disease (CD) have so far been described in th...

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Pubblicato in:J Clin Endocrinol Metab
Autori principali: Chasseloup, Fanny, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Keil, Margaret F, Chittiboina, Prashant, Kay, Denise M, Hussein Tayeb, Tara, Stratakis, Constantine A, Mills, James L, Hernández-Ramírez, Laura C
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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Clinical Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7190031/
https://ncbi.nlm.nih.gov/pubmed/32232325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/clinem/dgaa160
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