Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

Homozygosity for pathogenic variants in the leptin gene leads to congenital leptin deficiency causing severe early-onset obesity. This monogenic form of obesity has mainly been detected in patients from consanguineous families. Prevalence estimates for the general population using the Exome Aggregat...

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Bibliographic Details
Main Authors: Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484668/?tool=EBI