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- W1898605588 abstract "Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement." @default.
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- W1898605588 date "2016-07-01" @default.
- W1898605588 modified "2023-10-16" @default.
- W1898605588 title "Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome" @default.
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- W1898605588 doi "https://doi.org/10.1016/j.ejmhg.2015.08.009" @default.
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