Associated Papers
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J et al.
Kidney International, 2022
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
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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