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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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| 出版年: | J Endocr Soc |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Endocrine Society
2019
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| 主題: | |
| オンライン･アクセス: | 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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