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Noonan Syndrome

Known as: Noonan Ehmke Syndrome, Turner Like Syndrome, Syndrome, Familial Turner 
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Author(s): Go, Alan S; Mozaffarian, Dariush; Roger, Veronique L; Benjamin, Emelia J; Berry, Jarett D; Borden, William B; Bravata… Expand
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Review
2013
Review
2013
Author(s): Go, Alan S; Mozaffarian, Dariush; Roger, Veronique L; Benjamin, Emelia J; Berry, Jarett D; Borden, William B; Bravata… Expand
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Review
2010
Review
2010
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features… Expand
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Highly Cited
2007
Highly Cited
2007
Noonan syndrome, the most common single-gene cause of congenital heart disease, is characterized by short stature, characteristic… Expand
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Highly Cited
2007
Highly Cited
2007
Noonan and LEOPARD syndromes are developmental disorders with overlapping features, including cardiac abnormalities, short… Expand
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Highly Cited
2006
Highly Cited
2006
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in… Expand
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Highly Cited
2002
Highly Cited
2002
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal… Expand
Review
2002
Review
2002
The peroxisome proliferator-activated receptors (PPARs) are a group of three nuclear receptor isoforms, PPAR gamma, PPAR alpha… Expand
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Highly Cited
2001
Highly Cited
2001
Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by dysmorphic facial features, proportionate short… Expand
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Highly Cited
1982
Highly Cited
1982
Two cases of Noonan syndrome are observed. The Noonan syndrome is a Turner-like syndrome with normal chromosomal constitution… Expand