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Article

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

The Journal of clinical endocrinology and metabolism - 1 Jun 2020

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

Abstract excerpt

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 this setting. AIM: To screen a large cohort of CD patients for CDKN1B gene defects and to determine their functional...

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Identifiers

PMID: 32232325
DOI: 10.1210/clinem/dgaa160
PMCID: PMC7190031

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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