Condition: Loeys-Dietz Syndrome, Type 1a


rs111426349 in TGFBR1 gene and Loeys-Dietz Syndrome, Type 1a PMID 24882528 2014 Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.

PMID 16928994 2006 Aneurysm syndromes caused by mutations in the TGF-beta receptor.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 16791849 2006 Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

PMID 21522183 2011 Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 22113417 2012 Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PMID 19883511 2009 Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

PMID 15731757 2005 A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PMID 16596670 2006 FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

PMID 25173340 2014 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).

PMID 22237449 2012 Evaluation of the adolescent or adult with some features of Marfan syndrome.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.