American Journal of Human Genetics

A new syndrome caused by mutations in AHDC1

A team of researchers led by Baylor College of Medicine have identified the gene underlying a newly recognized genetic syndrome that has symptoms of sleep apnea, delayed speech and hyptonia, or generalized upper body weakness.

May 01, 2014
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Refining the language for chromosomes

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Apr 17, 2014
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New tool pinpoints genetic sources of disease

Many diseases have their origins in either the genome or in reversible chemical changes to DNA known as the epigenome. Now, results of a new study from Johns Hopkins scientists show a connection between these two "maps." ...

Mar 20, 2014
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