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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… 
National Institutes of Health

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Related topics

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In BloodMicrobiologicalchemically inducednursing therapy
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Narrower (4)

Majewski SyndromeSaldino-Noonan SyndromeShort rib-polydactyly syndrome, Beemer typeShort 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.
The short rib polydactyly syndromes (SRPS) are a group of recessively inherited, perinatal-lethal skeletal disorders primarily… 
Highly Cited
2015
Highly Cited
2015
Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome
The short rib polydactyly syndromes (SRPS) are a heterogeneous group of autosomal recessive, perinatal-lethal skeletal disorders… 
Highly Cited
2009
Highly Cited
2009
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
2004
2004
Short rib-polydactyly syndrome
IntroductionShort rib-polydactyly syndrome (SRPD) is an autosomal recessive, lethal skeletal dysplasia. It is characterized by… 
Highly Cited
2002
Highly Cited
2002
Diagnostic dilemmas in the short rib-polydactyly syndrome group.
The short rib-polydactyly syndromes are a group of lethal skeletal dysplasias with autosomal recessive inheritance characterized… 
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… 
Highly Cited
1987
Highly Cited
1987
Three conditions in neonatal asphyxiating thoracic dysplasia (Jeune) and short rib-polydactyly syndrome spectrum: a clinicopathologic study.
Clinicopathologic examination of eight patients with asphyxiating thoracic dysplasia (Jeune; ATD) disclosed two different types… 
1980
1980
Short rib-polydactyly syndrome, Majewski type.
A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2… 
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… 
Highly Cited
1977
Highly Cited
1977
Short rib-polydactyly syndrome type 3.
Three infants died perinatally of asphyxia due to thoracic narrowing. Their uniform radiographic findings are different from… 
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