Genotype-phenotype correlations of marfan syndrome and related brillinopathies: phenomenon and molecular relevance

HIGHLIGHTS

  • who: August and collaborators from the Institute Child Health and Human Development (NIH), United States Semmelweis University, Hungary have published the article: Genotype-phenotype correlations of marfan syndrome and related brillinopathies: Phenomenon and molecular relevance, in the Journal: (JOURNAL)
  • what: In this review, the authors provide an overview of recent advances in the genotype-phenotype correlations of MFS and related fibrillinopathies, list potential molecular bases or mechanisms, and comment on the future research directions, hoping to present illuminating readings for both clinicians and researchers.
  • future: Molecular testing of FBN1 variants will play an . . .

     

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