Article
Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
Journal of clinical research in pediatric endocrinology - 2 Sept 2020
Bulut Fatma Derya, Özdemir Dilek Semine, Kotan Damla, Mengen Eda, Gürbüz Fatih, Yüksel Bilgin
Abstract excerpt
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....
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Cohort Studies
- Consanguinity
- DNA Mutational Analysis
- Dwarfism, Pituitary
- Family
- Female
- Gene Frequency
- Genetic Association Studies
- Genetic Predisposition to Disease