Compound heterozygous <i>ROBO1</i> gene variants in a neonate with congenital hypopituitarism, dysmorphic features and midline abnormalities: a case report and review of the literature

This case, together with accumulating evidence, supports <i>ROBO1</i> as a potential causative gene for CH. <i>ROBO1</i> should be considered during genetic evaluation of patients with CH and midline abnormalities. The co-occurrence of <i>NOTCH3</i> and <i>GPR161</i> variants raises the possibility of an oligogenic or multigenic etiology. The cross-talk between ROBO/SLIT and NOTCH signaling pathways may contribute to the complex phenotype observed and warrants further functional investigation.