title: Clinical utility gene card for: Menkes disease.
authors.affiliation: Center for Applied Human Molecular Genetics, Kennedy Center, Glostrup, Denmark. zet@kennedy.dk
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Tümer
authors.forename: Leo
authors.initials: L
authors.lastname: Klomp
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D027682:Cation Transport Proteins / Q000235:genetics*; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D005260:Female; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D012680:Sensitivity and Specificity
chemical_list: D027682:Cation Transport Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases