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Menkes Disease

  • Harold Chen
Living reference work entry

Abstract

Menkes and colleagues described Menkes disease in 1962 that reported five male infants in a family affected with a distinctive syndrome of neurologic degeneration, peculiar hair, and failure to thrive. Menkes disease is also called “kinky or steely hair disease.” The incidence of MK was originally estimated to be 1/35,000 (Danks et al. 1972), but more recent estimates have shown it to be a very rare disorder with 1/300,000 live-born babies affected (Tönnesen et al. 1991, 1992).

Keywords

Chorionic Villus Lysyl Oxidase Menkes Disease Carrier Detection ATP7A Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical GeneticsShriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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