CPE

Publications

Alsters SIM et al. Truncating homozygous mutation of carboxypeptidase E (CPE) in a morbidly obese female with type 2 diabetes mellitus, intellectual disability and hypogonadotrophic hypogonadism. PLoS One. 2015; 10(6):e0131417. PMID: 26120850.

Bosch E et al. BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome. J Clin Endocrinol Metab. 2021;106(12):3413-3427. PMID: 34383079.

Durmaz A et al. A new cause of obesity syndrome associated with a mutation in the carboxypeptidase gene detected in three siblings with obesity, intellectual disability and hypogonadotropic hypogonadism. J Clin Res Pediatr Endocrinol. 2021;13(1):52-60. PMID: 32936766.