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.

Genetics

New genetic cause of children's liver disease discovered

(Medical Xpress)—The discovery of a 'faulty gene' in children with liver disease could pave the way for new treatments for children with a range of serious and life-threatening liver conditions.

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