title: Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.
authors.forename: Antonio
authors.initials: A
authors.lastname: Percesepe
authors.forename: Emma
authors.initials: E
authors.lastname: Bertucci
authors.forename: Paola
authors.initials: P
authors.lastname: Ferrari
authors.forename: Licia
authors.initials: L
authors.lastname: Lugli
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Ferrari
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Mazza
authors.forename: Antonino
authors.initials: A
authors.lastname: Forabosco
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D018389:Codon, Nonsense; D050761:Cyclin-Dependent Kinase Inhibitor p57 / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006554:Hernia, Umbilical / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: D018389:Codon, Nonsense; D050761:Cyclin-Dependent Kinase Inhibitor p57