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Brachydactyly
Known as:
Brachydactyly syndrome
, Brachydactylies
, Brachydactyly [Disease/Finding]
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Congenital anomaly of abnormally short fingers or toes.
National Institutes of Health
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Related topics
Related topics
49 relations
ADAMS-OLIVER SYNDROME 5
AMINOPTERIN SYNDROME SINE AMINOPTERIN
Aarskog syndrome
Achondroplasia
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Narrower (15)
Acrocapitofemoral Dysplasia
BRACHYDACTYLY, TYPE D
Berk-Tabatznik syndrome
Bork 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
Guiqian Chen
,
C. Deng
,
Yi-Ping Li
International journal of biological sciences
2012
Corpus ID: 11048714
Transforming growth factor-beta (TGF-β)/bone morphogenic protein (BMP) signaling is involved in a vast majority of cellular…
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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.
Stephen R. Williams
,
M. Aldred
,
+7 authors
S. Elsea
American journal of human genetics
2010
Corpus ID: 24998694
Highly Cited
2005
Highly Cited
2005
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
P. Seemann
,
R. Schwappacher
,
+11 authors
S. Mundlos
The Journal of clinical investigation
2005
Corpus ID: 6943668
Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause…
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Highly Cited
2001
Highly Cited
2001
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1
B. Gao
,
J. Guo
,
+7 authors
Lin He
Nature Genetics
2001
Corpus ID: 22572955
Brachydactyly type A-1 (BDA-1; MIM 112500) is characterized by shortening or missing of the middle phalanges (Fig. 1a). It was…
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Highly Cited
2001
Highly Cited
2001
Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly
B. Hayward
,
A. Barlier
,
+4 authors
D. Bonthron
2001
Corpus ID: 55500248
Approximately 40% of growth hormone-secreting pituitary adenomas have somatic mutations in the GNAS1 gene (the so-called gsp…
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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
A. R. Afzal
,
A. Rajab
,
+8 authors
S. Jeffery
Nature Genetics
2000
Corpus ID: 8675689
The autosomal recessive form of Robinow syndrome (RRS; MIM 268310) is a severe skeletal dysplasia with generalized limb bone…
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Highly Cited
1997
Highly Cited
1997
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
S. Mundlos
,
F. Otto
,
+11 authors
B. Olsen
Cell
1997
Corpus ID: 8269332
Highly Cited
1997
Highly Cited
1997
Mutations of the TWIST gene in the Saethre-Chotzene syndrome
V. E. Ghouzzi
,
M. Merrer
,
+7 authors
J. Bonaventure
Nature Genetics
1997
Corpus ID: 22140671
Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly…
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Highly Cited
1989
Highly Cited
1989
The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.
J. Green
,
P. Parfrey
,
+7 authors
W. Pryse-Phillips
The New England journal of medicine
1989
Corpus ID: 21366652
To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence…
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Review
1969
Review
1969
The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies.
D. Klein
,
F. Ammann
Journal of the neurological sciences
1969
Corpus ID: 36009190
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