Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency


BULUT F. D. , Dilek S. O. , KOTAN L. D. , Mengen E., GÜRBÜZ F. , YÜKSEL B.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.12, ss.261-268, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 12 Konu: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4274/jcrpe.galenos.2020.2019.0191
  • Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Sayfa Sayıları: ss.261-268

Özet

Objective: Mutations of the genes encoding transcription factors which play important roles in pituitary morphogenesis, differentiation and maturation may lead to combined pituitary hormone deficiency (CPHD). PROP1 gene mutations are reported as the most frequent genetic aetiology of CHPD. The aim of this study was to describe the phenotypes of Turkish CPHD patients and define the frequency of PROP1 mutations.