Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference19 articles.
1. Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3;Delahaye;Eur. J. Med. Genet.,2009
2. Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients;Drera;Orphanet J. Rare Dis.,2009
3. Syndromic and non-syndromic aneurysms of the human ascending aorta share activation of the Smad2 pathway;Gomez;J. Pathol.,2009
4. Loeys-Dietz syndrome in pregnancy: a case description and report of a novel mutation;Gutman;Fetal Diagn. Ther.,2009
5. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat. Genet.,2005
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3. Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature;Molecular Genetics & Genomic Medicine;2023-03-21
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5. TGFBR1mutations associated with Loeys-Dietz syndrome are inactivating;Journal of Receptors and Signal Transduction;2012-03-14
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