LEPR Deficiency: Prevalence and Importance of a Novel Mutation and Significant Genetic Variants, Usually Underestimated


Creative Commons License

BİŞGİN A.

TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM, cilt.22, ss.85-90, 2018 (ESCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 22 Konu: 2
  • Basım Tarihi: 2018
  • Doi Numarası: 10.25179/tjem.2018-59842
  • Dergi Adı: TURKISH JOURNAL OF ENDOCRINOLOGY AND METABOLISM
  • Sayfa Sayısı: ss.85-90

Özet

Objevtice: Diagnostic testing for leptin receptor deficiency, a rare cause of obesity, should be performed in cases where it may affect the clinical management. Therefore, molecular tests are required to grant a conclusive diagnosis. In this study, the clinical utility of molecular testing and the importance of genetic counselling resulting from all the genetic variants, including both, disease-causing mutations and polymorphisms has been outlined.