Brachydactyly

Known as: Brachydactyly syndrome, Brachydactylies, Brachydactyly [Disease/Finding] 
Congenital anomaly of abnormally short fingers or toes.
National Institutes of Health

Papers overview

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2015
2015
Cardiovascular disease is the most common cause of death worldwide, and hypertension is the major risk factor. Mendelian… (More)
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2012
2012
Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental… (More)
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Highly Cited
2010
Highly Cited
2010
Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a… (More)
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Highly Cited
2005
Highly Cited
2005
Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause… (More)
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Highly Cited
2003
Highly Cited
2003
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the… (More)
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Highly Cited
2001
Highly Cited
2001
Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was… (More)
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Highly Cited
2000
Highly Cited
2000
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone… (More)
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Highly Cited
2000
Highly Cited
2000
Inherited limb malformations provide a valuable resource for the identification of genes involved in limb development… (More)
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Highly Cited
1997
Highly Cited
1997
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent… (More)
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1973
1973
A family showing brachydactyly associated with hypertension is reported. The number and location of the involved bones are quite… (More)
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