Brachydactyly

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

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Papers overview

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2015
2015
PDE3A mutations cause autosomal dominant hypertension with brachydactyly
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
A misplaced lncRNA causes brachydactyly in humans.
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
Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
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
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
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
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
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
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
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
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2
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
Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B
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
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent… (More)
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1973
1973
Hereditary brachydactyly associated with hypertension.
A family showing brachydactyly associated with hypertension is reported. The number and location of the involved bones are quite… (More)
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