Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele.
Percesepe
Antonio
A
Bertucci
Emma
E
Ferrari
Paola
P
Lugli
Licia
L
Ferrari
Fabrizio
F
Mazza
Vincenzo
V
Forabosco
Antonino
A
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
D018389:Codon, Nonsense; D050761:Cyclin-Dependent Kinase Inhibitor p57