Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome.
Versacci
Paolo
P
Digilio
M Cristina
MC
Sauer
Ursula
U
Dallapiccola
Bruno
B
Marino
Bruno
B
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000293:Adolescent; D002648:Child; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000473:pathology*; D004452:Echocardiography; D005260:Female; D006343:Heart Septal Defects / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D011664:Pulmonary Valve / Q000002:abnormalities*; D013577:Syndrome