Brachydaktylie Typ C

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

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