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Brachydactyly

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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
Transforming growth factor-beta (TGF-β)/bone morphogenic protein (BMP) signaling is involved in a vast majority of cellular… Expand
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Highly Cited
2012
Highly Cited
2012
Translocations are chromosomal rearrangements that are frequently associated with a variety of disease states and developmental… Expand
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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… Expand
Highly Cited
2010
Highly Cited
2010
Autosomal-dominant brachydactyly type E (BDE) is a congenital limb malformation characterized by small hands and feet… Expand
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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… Expand
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Highly Cited
2001
Highly Cited
2001
Approximately 40% of growth hormone-secreting pituitary adenomas have somatic mutations in the GNAS1 gene (the so-called gsp… Expand
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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… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly… Expand
Highly Cited
1989
Highly Cited
1989
To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence… Expand