Brachydaktylie Typ C

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.

Storm EE et al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.

Robin NH et al. (1997) Clinical and locus heterogeneity in brachydactyly type C.

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.

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.

Fitch N et al. (1979) Brachydactyly C, short stature, and hip dysplasia.

Ventruto V et al. (1976) Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.

Rowe-Jones JM et al. (1992) Brachydactyly type C associated with shortening of the hallux.

Sanz J et al. (1988) Type C brachydactyly transmitted through four generations.

Robinson GC et al. (1968) Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred.

Baraitser M et al. (1983) Recessively inherited brachydactyly type C.

Polymeropoulos MH et al. (1996) Brachydactyly type C gene maps to human chromsome 12q24.

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