American Journal of Human Genetics

Researchers identify new rare neuromuscular disease

An international team of researchers has identified a new inherited neuromuscular disorder. The rare condition is the result of a genetic mutation that interferes with the communication between nerves and ...

Sep 04, 2014
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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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