Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients

[1] Loeys BL(2005)A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Nat Genet 37 275-281

[2] Chen J(2010)2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Rad

[3] Neptune ER(2011)Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis Nat Genet 43 121-126

[4] Judge DP(2012)Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Nat Genet 44 922-927

[5] Podowski M(2012)TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome Nat Genet 44 916-921

[6] Holm T(2015)SMAD2 mutations are associated with arterial aneurysms and dissections Hum Mutat 36 1145-1149

[7] Hiratzka LF(2015)Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and dissections J Am Coll Cardiol 65 1324-1336

[8] Bakris GL(2018)A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 Hum Mutat 39 621-634

[9] Beckman JA(2016)Genetic testing of 248 Chinese aortopathy patients using a panel assay Sci Rep 6 33002-424

[10] Bersin RM(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-148

[1] Loeys BL(2005)A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2 Nat Genet 37 275-281

[2] Chen J(2010)2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Rad

[3] Neptune ER(2011)Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis Nat Genet 43 121-126

[4] Judge DP(2012)Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Nat Genet 44 922-927

[5] Podowski M(2012)TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome Nat Genet 44 916-921

[6] Holm T(2015)SMAD2 mutations are associated with arterial aneurysms and dissections Hum Mutat 36 1145-1149

[7] Hiratzka LF(2015)Mutations in a TGF-beta ligand, TGFB3, cause syndromic aortic aneurysms and dissections J Am Coll Cardiol 65 1324-1336

[8] Bakris GL(2018)A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3 Hum Mutat 39 621-634

[9] Beckman JA(2016)Genetic testing of 248 Chinese aortopathy patients using a panel assay Sci Rep 6 33002-424

[10] Bersin RM(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-148