Pituitary stalk interruption syndrome due to novel ROBO1 mutation presenting as combined pituitary hormone deficiency and central diabetes insipidus.
Raiz Ahmad MisgarAnkit ChhabraAjaz QadirSidharth AroraArshad Iqbal WaniMir Iftikhar BashirShariq Rashid MasoodiPublished in: Journal of pediatric endocrinology & metabolism : JPEM (2024)
mutation. The full clinical spectrum of the mutations may not be fully known.