title: De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
authors.affiliation: Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas.
authors.forename: Abhimanyu
authors.initials: A
authors.lastname: Garg
authors.forename: Chao
authors.initials: C
authors.lastname: Xing
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis / Q000235:genetics; D054730:Protein Interaction Domains and Motifs / Q000235:genetics; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines