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
Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
Ding Y et al.
Npj Genomic Medicine, 2023
Uncertain, Not Unimportant: Callosal Dysgenesis and Variants of Uncertain Significance in ROBO1.
Woodring TS et al.
Pediatrics, 2021
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