Condition: Synophrys


rs1057516034 in NIPBL gene and Synophrys PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1563686762 in RAD21;UTP23 gene and Synophrys PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.