Condition: Prominent digit pad
rs1555743003
in
ASXL3
gene and
Prominent digit pad
PMID 27075689
2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
rs1563686762
in
RAD21;UTP23
gene and
Prominent digit pad
PMID 30125677
2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.