Table 2

Genomics of isolated brachydactyly

Type
OMIM
Gene Name
Gene Locus
Reference

BDA1
112500
IHH BDA1B
2q35-q35 5p13.3-p13.2
Gao et al. [12]
Kirkpatrick et al. [14]
BDA2
112600
BMPR1B GDF5
4q21-q20 20q11.2
Lehmann et al. [17]
Kjaer et al. [18]
BDA4
112800
HOXD13
2q31-q32
Zhao et al. [26]
BDB
113000
ROR2 NOG
9q22 4q23-q24
Schwabe et al. [30]
Lehmann et al. [31]
BDC
113100
CDMP1
20q11.2
Polinkovsky et al. [37]
BDD
113200
HOXD13
2q31-q32
Johnson et al. [50]
BDE
113300
HOXD13
2q31-q32
Johnson et al. [50]

Temtamy and Aglan Orphanet Journal of Rare Diseases 2008 3:15   doi:10.1186/1750-1172-3-15