Condition: CORNELIA DE LANGE SYNDROME 4


rs1563687901 in RAD21 gene and CORNELIA DE LANGE SYNDROME 4 PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

PMID 22633399 2012 RAD21 mutations cause a human cohesinopathy.

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

PMID 22633399 2012 RAD21 mutations cause a human cohesinopathy.