Article: Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in
2023 Volume 15, Issue 2, Page(s) 104–113
Abstract: Introduction: 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 ": Methods: Sanger sequencing and whole-exome ... ...
Abstract | Introduction: 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 " Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m Discussion/conclusion: Our study expands the phenotypical manifestations and variation database of |
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Language | English |
Publishing date | 2023-12-19 |
Publishing country | Switzerland |
Document type | Journal Article |
ZDB-ID | 2546218-0 |
ISSN | 1661-8777 ; 1661-8769 |
ISSN (online) | 1661-8777 |
ISSN | 1661-8769 |
DOI | 10.1159/000535253 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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