Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in

Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The " Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m Our study expands the phenotypical manifestations and variation database of

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© 2023 S. Karger AG, Basel.

Déclaration de conflit d'intérêts

The authors have no conflicts of interest to declare.