A New Cause of Obesity Syndrome Associated with a Mutation in Carboxypeptidase (CPE) Gene Detected in Three Siblings with Obesity, Intellectual Disability and Hypogonadotropic Hypogonadism

CONCLUSION: This study provides additional evidence on the association between a homozygous nonsense mutation in CPE and a clinical phenotype with obesity, intellectual disability and hypogonadotropic hypogonadism, which can be considered as a new monogenic obesity syndrome. PMID: 32936766 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research