Loeys-Dietz syndrome 1

Pannu H et al. (2005) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

Sheikhzadeh S et al. (2014) Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation.

Schepers D et al. (2018) A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Mégarbané A et al. (1998) Craniosynostosis and marfanoid habitus without mental retardation: report of a third case.

MacCarrick G et al. (2014) Loeys-Dietz syndrome: a primer for diagnosis and management.

Lacombe D et al. (1993) Marfanoid features and craniosynostosis: report of one case and review.

Jondeau G et al. (2016) International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).

Furlong J et al. (1987) New Marfanoid syndrome with craniosynostosis.

None (2008) Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases.

Adès LC et al. (2006) FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited.

Tran-Fadulu V et al. (2009) Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations.

Nicod P et al. (1989) Familial aortic dissecting aneurysm.

Mátyás G et al. (2006) Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders.

Loeys BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor.

Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

Drera B et al. (2008) Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype.

De Paepe A et al. (1996) Revised diagnostic criteria for the Marfan syndrome.