Loeys-Dietz syndrome 2 is an autosomal dominant disorder caused by mutations of TGF beta receptor 2. It is characterized by connective tissue dysfunction in the skeletal and vascular system.
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Watanabe Y et al. (2008) Paternal somatic mosaicism of a TGFBR2 mutation transmitting to an affected son with Loeys-Dietz syndrome. |
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None (1994) Marfan syndrome or Marfan-like connective-tissue disorder. |
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Chung BH et al. (2014) Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. |
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Sheikhzadeh S et al. (2014) Dural ectasia in Loeys-Dietz syndrome: comprehensive study of 30 patients with a TGFBR1 or TGFBR2 mutation. |
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Jondeau G et al. (2016) International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium). |
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None (2008) Evolution of the face in Loeys-Dietz syndrome type II: longitudinal observations from infancy in seven cases. |
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Loeys BL et al. (2005) A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. |
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Pannu H et al. (2005) Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. |
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Mizuguchi T et al. (2004) Heterozygous TGFBR2 mutations in Marfan syndrome. |
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Kosaki K et al. (2006) Molecular pathology of Shprintzen-Goldberg syndrome. |
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Kirmani S et al. (2010) Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. |
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Ito Y et al. (2003) Conditional inactivation of Tgfbr2 in cranial neural crest causes cleft palate and calvaria defects. |
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Hasham SN et al. (2003) Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. |
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Disabella E et al. (2006) Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. |
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Boileau C et al. (1993) Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes. |
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Azhar M et al. (2003) Transforming growth factor beta in cardiovascular development and function. |
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Tran-Fadulu V et al. (2009) Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. |
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Loeys BL et al. (2006) Aneurysm syndromes caused by mutations in the TGF-beta receptor. |