De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

MeSH Terms: Abnormalities, Multiple, Adolescent, Adult, Child, Child, Preschool, Diagnosis, Differential, Female, Fibrillin-1, Fibrillins, Genetic Association Studies, Heterozygote, Humans, Male, Marfan Syndrome, Microfilament Proteins, Mutation, Phenotype, Progeria, Protein Interaction Domains and Motifs, Young Adult