Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency


ÖZEN S. , OZCAN N., Ucar S. K. , Goksen D. , DARCAN Ş.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.28, ss.691-694, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 28
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1515/jpem-2014-0324
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.691-694

Özet

Background/aims: Loss of function mutations of proopiomelanocortin (POMC) gene results in adrenal insufficiency, early-onset hyperphagic obesity, and red hair. However, neuromotor retardation with POMC deficiency has not been reported before.