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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]