Condition: Macrostomia


rs1057516044 in ABCC9 gene and Macrostomia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1334099693 in SOX4 gene and Macrostomia PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.