Condition: BRACHYDACTYLY, TYPE A1, C
rs397514519
in
GDF5;GDF5-AS1
gene and
BRACHYDACTYLY, TYPE A1, C
PMID 24098149
2013 A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
PMID 20683927
2010 Mutations in GDF5 presenting as semidominant brachydactyly A1.