Associated Papers
Compound heterozygous ROBO1 gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature.
Markopoulou P et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1.
Woodring TS et al.
Pediatrics, 2021
A Novel Missense Mutation in Human Receptor Roundabout-1 (ROBO1) Gene Associated with Pituitary Stalk Interruption Syndrome
Liu Z et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Brauner R et al.
Plos One, 2020
A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.
Dateki S et al.
Journal of Human Genetics, 2019
Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.
Bashamboo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
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