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.