Condition: Flexion contracture
rs1060499548
in
ABL1
gene and
Flexion contracture
PMID 28288113
2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
rs1555743003
in
ASXL3
gene and
Flexion contracture
PMID 27075689
2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.