Fig. 2
From: Unraveling a novel FBN1 variant in Marfan syndrome with dilated aortic root manifestation
(A) Familial pedigree showing the genetic and clinical status of family members. The proband is indicated by the number 1 in the third generation. Individual 7 represents an unaffected person who was genetically assessed. Individuals 6 in the second generation and 1 and 2 in the third generation are affected individuals with confirmed genetic testing. Individuals 1 and 4 in the second-generation are short with pectus excavatum. Moreover, individuals 2 and 5 in the second-generation are tall and have pectus carinatum, but they were not genetically confirmed. There is no clinical or genetic information available for the first generation. (B) These images depict two distinct sequences: Figure A represents the mutant sequence, while Figure B portrays the wild-type sequence. Mutations are visually delineated within the sequences