title: Shprintzen-Goldberg syndrome results from mutations in fibrillin-1, not monosomy 22q11.
authors.forename: E
authors.initials: E
authors.lastname: Hatchwell
mesh_terms: D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D003937:Diagnosis, Differential; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D000071838:Fibrillin-1; D000071837:Fibrillins; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D009006:Monosomy / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome; D054392:Adipokines
chemical_list: D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines