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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

Related topics

Related topics

49 relations
ADAMS-OLIVER SYNDROME 5AMINOPTERIN SYNDROME SINE AMINOPTERINAarskog syndromeAchondroplasia
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Narrower (15)

Acrocapitofemoral DysplasiaBRACHYDACTYLY, TYPE DBerk-Tabatznik syndromeBork Stender Schmidt syndrome
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2012
Review
2012
TGF-β and BMP Signaling in Osteoblast Differentiation and Bone Formation
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
A misplaced lncRNA causes brachydactyly in humans.
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
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… Expand
Highly Cited
2010
Highly Cited
2010
Deletion and point mutations of PTHLH cause brachydactyly type E.
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
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… Expand
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Highly Cited
2001
Highly Cited
2001
Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
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
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… Expand
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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… Expand
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Highly Cited
1997
Highly Cited
1997
Mutations of the TWIST gene in the Saethre-Chotzene syndrome
Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly… Expand
Highly Cited
1989
Highly Cited
1989
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.
To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence… Expand
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