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
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
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