title: Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin.
authors.forename: T
authors.initials: T
authors.lastname: Gardeitchik
authors.forename: N
authors.initials: N
authors.lastname: de Leeuw
authors.forename: L
authors.initials: L
authors.lastname: Nijtmans
authors.forename: P
authors.initials: P
authors.lastname: Jira
authors.forename: T
authors.initials: T
authors.lastname: Kozicz
authors.forename: M
authors.initials: M
authors.lastname: Czako
authors.forename: I
authors.initials: I
authors.lastname: van de Burgt
authors.forename: E
authors.initials: E
authors.lastname: Morava
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D058674:Chromosome Duplication; D002880:Chromosomes, Human, Pair 11; D002971:Cleft Lip / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D056685:Costello Syndrome / Q000235:genetics / Q000473:pathology; D003483:Cutis Laxa / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D004549:Elastin / Q000172:deficiency* / Q000648:ultrastructure; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis; D059785:Karyotype; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics
chemical_list: D004549:Elastin; C501009:HRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)