A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

Callea, Michele; Willoughby, Colin Eric; Camarata-Scalisi, Francisco; Giovannoni, Isabella; Vinciguerra, Agatino; Yavuz, Izzet; Di Stazio, Mariateresa; Di Iorio, Enzo; Clarich, Gabriella; Benettoni, Alessandra; Galeotti, Angela; Bellacchio, Emanuele.
Invest. clín ; 58(1): 70-78, mar. 2017. ilus, graf
Artículo en Inglés | LILACS | ID: biblio-841138

Documentos relacionados

  1. An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
  2. A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
  3. [Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].
  4. The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.
  5. Orthopaedic aspects in seventy-two children affected by Marfan syndrome. Correlations between pathological features and fibrillin-1 gene mutations.
  6. [Analysis of FBN1 gene mutations in two pedigrees affected with Marfan syndrome].
  7. Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
  8. Fibrillin-1 regulates endothelial sprouting during angiogenesis.
  9. [Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].
  10. [Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].