Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00942.x/fullpdf
Reference9 articles.
1. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2;Loeys;Nat Genet,2005
2. Aneurysm syndromes caused by mutations in the TGF-beta receptor;Loeys;N Engl J Med,2006
3. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type;Pepin;N Engl J Med,2000
4. Mechanism of activation of the TGF-beta receptor;Wrana;Nature,1994
5. Transforming growth factor beta in cardiovascular development and function;Azhar;Cytokine Growth Factor Rev,2003
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2. Multiple Self-Healing Squamous Epithelioma (MSSE): A Digenic Trait Associated with Loss of Function Mutations in TGFBR1 and Variants at a Second Linked Locus on the Long Arm of Chromosome 9;Genes;2020-11-26
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4. Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology;Clinical Genetics;2019-11-03
5. Loeys-Dietz Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
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