Condition: ARTHROGRYPOSIS, DISTAL, TYPE 1B
rs387906657
in
MYBPC1
gene and
ARTHROGRYPOSIS, DISTAL, TYPE 1B
PMID 26661508
2016 Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
PMID 20045868
2010 Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.