Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation.
Ogino
S
S
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115 USA. sogino@partners.org
Wilson
R B
RB
Grody
W W
WW
D001499:Bayes Theorem; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D007422:Intestines / Q000000981:diagnostic imaging; D009154:Mutation; D010290:Parents; D011247:Pregnancy; D018570:Risk Assessment; D016216:Ultrasonography, Prenatal
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator