title: Campomelic syndrome in phenotypic females with 46,XY chromosomes: evidence of genetic heterogeneity.
mesh_terms: D000015:Abnormalities, Multiple; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping