Hidden from plain sight: a classic neurocutaneous syndrome without cutaneous manifestation.

08:00 EDT 1st June 2019 | BioPortfolio

Summary of "Hidden from plain sight: a classic neurocutaneous syndrome without cutaneous manifestation."

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This article was published in the following journal.

Name: The journal of the Royal College of Physicians of Edinburgh
ISSN: 2042-8189
Pages: 141-142


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Medical and Biotech [MESH] Definitions

An autosomal recessive neurocutaneous disorder characterized by severe ichthyosis MENTAL RETARDATION; SPASTIC PARAPLEGIA; and congenital ICHTHYOSIS. It is caused by mutation of gene encoding microsomal fatty ALDEHYDE DEHYDROGENASE leading to defect in fatty alcohol metabolism.

The turning inward of the lines of sight toward each other.

A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.

The organ of sight constituting a pair of globular organs made up of a three-layered roughly spherical structure specialized for receiving and responding to light.

A process that searches for hidden and important connections among information embedded in published literature.

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