Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Identification of novelFBN1andTGFBR2mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes

(2009) Brian Hon-Yin Chung et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

(2009) David Attias et al.   CIRCULATION

Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

(2009) V Tran-Fadulu et al.   JOURNAL OF MEDICAL GENETICS

Absence of TGFBR1 and TGFBR2 Mutations in Patients With Bicuspid Aortic Valve and Aortic Dilation

(2008) Cammon B. Arrington et al.   AMERICAN JOURNAL OF CARDIOLOGY

Paternal somatic mosaicism of aTGFBR2mutation transmitting to an affected son with Loeys-Dietz syndrome

(2008) Yoriko Watanabe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of 23TGFBR2and 6TGFBR1gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

(2008) Chantal Stheneur et al.   HUMAN MUTATION