Ontology highlight
ABSTRACT:
SUBMITTER: Niazi RK
PROVIDER: S-EPMC6238292 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Niazi Robina Khan RK Gjesing Anette P AP Hollensted Mette M Have Christian Theil CT Grarup Niels N Pedersen Oluf O Ullah Asmat A Shahid Gulbin G Ahmad Wasim W Gul Asma A Hansen Torben T
BMC medical genetics 20181115 1
<h4>Background</h4>Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. The aim of the current study was to examine the prevalence of damaging LEP, LEPR, and MC4R mutations in Pakistani families having a recessive heritance of early-onset obesity.<h4>Methods</h4>Using targeted resequencing, the presence of rare mutations in LEP, LEPR, and MC4R, was investigated in individuals from ...[more]