A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.

08:00 EDT 10th July 2018 | BioPortfolio

Summary of "A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome."

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple organ system anomalies. Previously, the diagnosis of CdLS was based mainly on identifying the typical phenotype in patients. However, with the advances in clinical molecular genetic diagnostic techniques, more patients, especially patients with milder phenotypes, are being diagnosed from detecting pathogenic mutation.


Journal Details

This article was published in the following journal.

Name: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
ISSN: 1421-9778
Pages: 2388-2395


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Medical and Biotech [MESH] Definitions

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A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.

A mutation that causes a decrease in or elimination of a gene product's activity.

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