Associated Papers
Severe atopic dermatitis in a patient with Loeys-Dietz syndrome treated with dupilumab.
Gkalpakiotis S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang RQ et al.
Bmc Genetics, 2014
24941995 (PubMed )
Supplement: 1471-2156-15-74-S2.docx
Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
Zhang L et al.
Molecular Vision, 2012
Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations.
Söylen B et al.
Clinical Genetics, 2009
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders.
Mizuguchi T et al.
Journal of Human Genetics, 2007
TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.
Singh KK et al.
Human Mutation, 2006
Select a paper to view details