Faucz FR

ORCID: 0000-0001-7959-9842 · 1 paper in corpus
2020
Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.
The Journal of clinical endocrinology and metabolism ·doi:10.1210/clinem/dgaa160

ContextGermline 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 …