title: De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.
authors.affiliation: aMedical Genetics Laboratory, Victor Babes National Institute of Pathology bDepartment of Pediatric Neurology cDepartment of Child and Adolescent Psychiatry, Prof. Dr. Alex. Obregia Clinical Hospital of Psychiatry, Bucharest, Romania dInstitute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Budisteanu
authors.forename: Sorina M
authors.initials: SM
authors.lastname: Papuc
authors.forename: Andreea C
authors.initials: AC
authors.lastname: Tutulan-Cunita
authors.forename: Bogdan
authors.initials: B
authors.lastname: Budisteanu
authors.forename: Eva
authors.initials: E
authors.lastname: Weis
authors.forename: Aurora
authors.initials: A
authors.lastname: Arghir
authors.forename: Ulrich
authors.initials: U
authors.lastname: Zechner
authors.forename: Oliver
authors.initials: O
authors.lastname: Bartsch
mesh_terms: D000483:Alleles; D002648:Child; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D019066:Facies; D000071838:Fibrillin-1 / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007906:Lens Subluxation / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D010641:Phenotype; D018980:Williams Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D018995:Myosin Heavy Chains; C000605722:FBN1 protein, human; D054392:Adipokines; C509903:MYH11 protein, human