A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies
Makaleler > Tam Makale · 2011
Yazarlar: Mehmet Burak DURMAZ, Muhsin Özgür ÇOĞULU, Ceyhun DIZDARER, Heike STOBBE, Roland PFAEFFLE, Feriştah Ferda ÖZKINAY
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2011, cilt 24, ss 779-782
Özet
Objective: There are many genes reported to have been associated with combined pituitary hormone deficiencies, but mutations in HESX1 strongly correlate with septo-optic dysplasia. Our aim was to determine the cause of panhypopituitarism in our patient.