Table 3 Genomics of some syndromes with brachydactyly
From: Brachydactyly
Type | OMIM | Gene Name | Gene Locus | Reference |
|---|---|---|---|---|
Robinow syndrome (autosomal recessive) | 268310 | ROR2 | 9q22 | Stickler et al. [57] |
Rubinstein-Taybi syndrome | 180849 | CREBBP EP300 | 16p13.3 22q13 | Roelfsema & Peters [58] |
Albright hereditary osteodystrophy | 103580 | GNAS1 (imprinting) | 20q13.2-20q13.3 | Davies & Hughes [59] |
Brachydactyly type E with hypertension | 112410 | PDE3A | 12p12.2-p11.2 | Gong et al. [60] |
du Pan syndrome | 228900 | CDMP1 | 20q11.2 | Faiyaz-Ul-Haque et al. [61] |