Possible homozygous Waardenburg syndrome in a fetus with exencephaly.
Aymé
S
S
Philip
N
N
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005333:Fetus / Q000473:pathology; D006720:Homozygote; D006801:Humans; D008297:Male; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012886:Skull / Q000002:abnormalities*; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology
D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse