Brachydactyly type Farabee is an autosomal dominant disorder with heterogeneous genetic background. Mutations are found in the following genes BMPR1B, BMP2, and GDF5. Characteristic is a shortage middle phalanges of index and little finger. Patients exhibit a short stature and some other skeletal abnormalities.
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Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. |
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Su P et al. (2011) A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family. |
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Seemann P et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. |
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Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing. |
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Kjaer KW et al. (2006) A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. |
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Lehmann K et al. (2006) A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. |
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Lehmann K et al. (2003) Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. |
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None (1972) Brachydactyly type A 2 in an American Negro family. |
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OMIM.ORG article Omim 112600 |
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Orphanet article Orphanet ID 93396 |
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Wikipedia article Wikipedia EN (Brachydactyly) |