Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Haws-type brachydactyly is an autosomal dominant disorder caused by mutations of the GDF5 gene. Characteristic is a shortage of proximal and middle phalanges with sometimes hypersegmentation. The ring finger is often less affected and pjojects beyond all other fingers. Sometimes patients exhibit a short stature and some other skeletal abnormalities.
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Robinson GC et al. (1968) Hereditary brachydactyly and hip disease. Unusual radiological and dermatoglyphic findings in a kindred.
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Sanz J et al. (1988) Type C brachydactyly transmitted through four generations.
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Rowe-Jones JM et al. (1992) Brachydactyly type C associated with shortening of the hallux.
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Ventruto V et al. (1976) Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
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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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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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Robin NH et al. (1997) Clinical and locus heterogeneity in brachydactyly type C.
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Storm EE et al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.
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| 14. |
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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Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
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| 19. |
Orphanet article Orphanet ID 93384
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| 20. |
OMIM.ORG article Omim 113100
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| 21. |
Wikipedia article Wikipedia EN (Brachydactyly)
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