Brachydaktylie

Dathe K et al. (2009) Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

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.

Seemann P et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing.

Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

Everman DB et al. (2002) The mutational spectrum of brachydactyly type C.

Savarirayan R et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities.

Schwabe GC et al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

Yang W et al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

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.

Cuevas-Sosa A et al. (1971) Brachydactyly with absence of middle phalanges and hypoplastic nails. A new hereditary syndrome.

None (1968) Familial absence of middle phalanges with nail dysplasia: a new syndrome.

Ohzeki T et al. (1993) Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother.

Williams KD et al. (2007) Heritability of brachydactyly type A3 in children, adolescents, and young adults from an endogamous population in eastern Nepal.

Galjaard RJ et al. (2001) Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone.

Debeer P et al. (2001) Intrafamilial clinical variability in type C brachydactyly.

Wikipedia Artikel