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Menkes disease in affected females: The clinical disease spectrum
Authors:Patroula Smpokou  Monisha Samanta  Gerard T. Berry  Leah Hecht  Elizabeth C. Engle  Uta Lichter‐Konecki
Affiliation:1. Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia;2. The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia;3. Division of Genetics, Boston Children's Hospital, Boston, Massachusetts;4. Harvard Medical School, Boston, Massachusetts;5. Department of Neurology, Boston Children's Hospital, Boston, Massachusetts;6. Howard Hughes Medical Institute, Bethesda, Maryland;7. Division of Clinical Genetics, Morgan Stanley Children's Hospital of New York, New York, New York
Abstract:
Keywords:Menkes disease  Menkes syndrome  ATP7A  kinky hair syndrome  pili torti  copper deficiency
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