title: De novo mosaic 46,XX,del(3)(q21q25)/46,XX karyotype in a patient with BPES.
authors.forename: J J M
authors.initials: JJ
authors.lastname: Engelen
authors.forename: C E M
authors.initials: CE
authors.lastname: De Die-Smulders
authors.forename: E
authors.initials: E
authors.lastname: Back
mesh_terms: 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
chemical_list: D014157:Transcription Factors