46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia.
Kent
Alison
A
Simpson
Erroll
E
Ellwood
David
D
Silink
Martin
M
D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics / Q000473:pathology*; D006548:Hernia, Diaphragmatic / Q000473:pathology*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D009687:Nuclear Proteins / Q000235:genetics; D011247:Pregnancy; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors / Q000235:genetics
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors