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.