Genetics in Medicine

Genetics in Medicine is the official journal of the American College of Medical Genetics and Genomics.

Publisher
NPG

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Genetics

Discovered a cause of mental retardation and autism

The term intellectual disability covers a large number of clinical entities, some with known cause and others of uncertain origin. For example Down syndrome is due to an extra copy of chromosome 21 and Rett syndrome is in ...

Genetics

Biochemists confirm existence of theoretical genetic disorder

Thanks to the sequencing of the human genome, scientists can now discover potential disorders for which there are no known patients. One such disorder is MPS III-E, originally also called Dierks's disorder after its discoverer. ...

Genetics

Two new breast cancer genes emerge from Lynch syndrome gene study

Researchers at Columbia University Irving Medical Center and NewYork-Presbyterian have identified two new breast cancer genes. Having one of the genes—MSH6 and PMS2—approximately doubles a woman's risk of developing breast ...

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