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Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome

✍ Scribed by Stephen G. Kaler

Book ID
106249769
Publisher
Springer
Year
1998
Tongue
English
Weight
171 KB
Volume
1
Category
Article
ISSN
1093-5266

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Distinctive Menkes disease variant with
Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
✍ Proud, Virginia K.; Mussell, Holly G.; Kaler, Stephen G.; Young, Daniel W.; Perc πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 852 KB

To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS). T