title: The genetic defect in the de Sanctis-Cacchione syndrome.
mesh_terms: D000293:Adolescent; D001345:Autoradiography; D002459:Cell Fusion; D002478:Cells, Cultured; D002648:Child; D004247:DNA / Q000096:biosynthesis; D004260:DNA Repair; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000528:radiation effects; D006801:Humans; D006822:Hybrid Cells; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009461:Neurologic Manifestations; D010375:Pedigree; D011830:Radiation Effects; D012730:Sex Chromosomes; D012867:Skin / Q000378:metabolism / Q000528:radiation effects; D013577:Syndrome; D014466:Ultraviolet Rays; D014983:Xeroderma Pigmentosum / Q000235:genetics*
chemical_list: D004247:DNA