100 results

... rupture/dissection GI perforation or organ rupture FBN1 Marfan syndrome AD Recurrent pneumothorax associated w/lung bullae Connective ...

... Based on experience in related disorders (e.g., Marfan syndrome ), treatment w/beta-blockers or angiotensin receptor blockers ... 20), the Dutch Heart Foundation (2013T093), and the Marfan Foundation. Dr Loeys, ... vascular disorders (VASCERN). Revision History ...

... muscle weakness or abnormal muscle biopsy findings FBN1 Marfan syndrome AD Joint hyperlaxity, delayed motor milestones, soft skin ...

... phenotypic traits. For example, the genetic mutation causing Marfan syndrome results in cardiovascular, skeletal, and ophthalmologic abnormalities. Similarly, ...

... problems during pregnancy in women with PVNH. See Marfan Syndrome and Classic Ehlers-Danlos Syndrome for possible pregnancy ...

... implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. Hum Mol Genet. 2003; 12 : ...

... is a disorder of homocysteine catabolism with a Marfan syndrome-like phenotype , soft skin, lens dislocation, developmental delays / ...

... function variants in TGFBR1 are associated with unrelated Marfan-like syndromes, such as Loeys-Dietz syndrome, which have no ... information, see Hereditary Leiomyomatosis and Renal Cell ... syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of ...

... significant difference between those with a history of Marfan’s syndrome and those without, 68 , 73 , 217 although the ...