De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES.
Engelen
J J M
JJ
De Die-Smulders
C E M
CE
Back
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E
D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
D014157:Transcription Factors