TY - GEN AU - Hernan Yupanqui-Lozno AU - Raul A. Bastarrachea AU - Maria E. Yupanqui-Velazco AU - Monica Alvarez-Jaramillo AU - Esteban Medina-Méndez AU - Aida P. Giraldo-Peña PY - 2019 SN - 20734425 UR - http://hdl.handle.net/10818/62290 AB - Background: Congenital leptin deficiency is a recessive genetic disorder associated with severe early-onset obesity. It is caused by mutations in the leptin (LEP) gene, which encodes the protein product leptin. These mutations may cause... AB - Antecedentes: la deficiencia congenita de leptina es un trastorno genetico recesivo asociado con obesidad grave de aparicion temprana. Es causada por mutaciones en el gen de la leptina (LEP), que codifica el producto proteico leptina. Estas mutaciones... LA - spa PB - Genes KW - Colombian sisters KW - LEP gene KW - Congenital leptin deficiency KW - Consanguinity KW - Extreme obesity KW - Novel mutation TI - Congenital leptin deficiency and leptin gene missense mutation found in two colombian sisters with severe obesity DO - 10.3390/genes10050342. ER -