Brachydactyly is an inborn shortage of fingers and toes. Inheritance is dominant. This group of disorders is heterogeneous pathogenetically and morphologically.
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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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Debeer P et al. (2001) Intrafamilial clinical variability in type C brachydactyly. |
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Galjaard RJ et al. (2001) Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone. |
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Williams KD et al. (2007) Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal. |
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Ohzeki T et al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother. |
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None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome. |
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Cuevas-Sosa A et al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome. |
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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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Yang W et al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism. |
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Schwabe GC et al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. |
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None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities. |
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Savarirayan R et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. |
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Everman DB et al. (2002) The mutational spectrum of brachydactyly type C. |
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Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C. |
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Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing. |
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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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Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. |
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Wikipedia article Wikipedia EN (Brachydactyly) |