title: "Brittle" hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000201:Activation Analysis; D000328:Adult; D002570:Ceruloplasmin / Q000097:blood; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D003241:Consanguinity; D003300:Copper / Q000097:blood; D005006:Ethnicity; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006197:Hair / Q000032:analysis / Q000473:pathology; D006801:Humans; D007196:Indiana; D007246:Infertility; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008855:Microscopy, Electron, Scanning; D008859:Microscopy, Polarization; D010375:Pedigree; D012871:Skin Diseases / Q000235:genetics; D013455:Sulfur / Q000032:analysis; D013577:Syndrome
chemical_list: D013455:Sulfur; D003300:Copper; D002570:Ceruloplasmin