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Short Rib-Polydactyly Syndrome
Known as:
Short Rib Polydactyly Syndrome
, Short Rib-Polydactyly Syndrome [Disease/Finding]
, Short Rib-Polydactyly Syndromes
A rare congenital lethal syndrome characterized by the presence of extra fingers and toes and short ribs, the latter resulting in inability of the…
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National Institutes of Health
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Related topics
Related topics
10 relations
In Blood
Microbiological
chemically induced
nursing therapy
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Narrower (4)
Majewski Syndrome
Saldino-Noonan Syndrome
Short rib-polydactyly syndrome, Beemer type
Short rib-polydactyly syndrome, Verma-Naumoff type
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.
S. Paige Taylor
,
M. Kunova Bosakova
,
+17 authors
P. Krejcí
Human molecular genetics
2016
Corpus ID: 12226530
The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily…
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Highly Cited
2015
Highly Cited
2015
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
S. P. Taylor
,
Tiago J Dantas
,
+6 authors
D. Krakow
Nature communications
2015
Corpus ID: 14798386
The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders…
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Highly Cited
2009
Highly Cited
2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
N. Dagoneau
,
Marie Goulet
,
+13 authors
V. Cormier-Daire
American journal of human genetics
2009
Corpus ID: 24457111
2004
2004
Short rib-polydactyly syndrome
M. Naki
,
D. Gür
,
E. Zemheri
,
C. Tekcan
,
F. Kanadikirik
,
R. Has
Archives of Gynecology and Obstetrics
2004
Corpus ID: 23864348
IntroductionShort rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by…
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Highly Cited
2002
Highly Cited
2002
Diagnostic dilemmas in the short rib-polydactyly syndrome group.
N. Elçioglu
,
C. Hall
American journal of medical genetics
2002
Corpus ID: 1739581
The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized…
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Review
2001
Review
2001
Clinical aspects of defects in the determination of laterality.
A. Aylsworth
American journal of medical genetics
2001
Corpus ID: 39996425
Of individuals in the human population, 99.99% have developed identical thoracoabdominal asymmetry with the cardiac apex, a…
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Highly Cited
1987
Highly Cited
1987
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.
S. Yang
,
L. Langer
,
+5 authors
H. Chen
American journal of medical genetics. Supplement
1987
Corpus ID: 20912339
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types…
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1980
1980
Short rib-polydactyly syndrome, Majewski type.
H. Chen
,
S. Yang
,
E. Gonzalez
,
M. Fowler
,
A. Al Saadi
American journal of medical genetics
1980
Corpus ID: 46018867
A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2…
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1980
1980
Non-Majewski short rib-polydactyly syndrome.
D. Sillence
American journal of medical genetics
1980
Corpus ID: 2007243
Clinical, radiographic, and morphologic studies of non-Majewski short rib-polydactyly cases show a spectrum of abnormalities…
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Highly Cited
1977
Highly Cited
1977
Short rib-polydactyly syndrome type 3.
P. Naumoff
,
L. W. Young
,
J. Mazer
,
A. Amortegui
Radiology
1977
Corpus ID: 20222493
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from…
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