Genetics

Scientists discover how genetic mutations drive Weaver syndrome

Scientists have discovered how mutations in a specific gene drive the rare developmental disorder Weaver syndrome, which is marked by intellectual disability and overgrowth and predisposes people with the condition to cancer. ...

Genetics

Gene discovered for Weaver syndrome

Scientists have found a gene that causes Weaver syndrome, a rare genetic disorder that typically causes large size at birth, tall stature, developmental delay during childhood, and intellectual disability. Published today ...

Weaver syndrome (also called Weaver-Williams syndrome) is a congenital disorder associated with rapid growth beginning in the prenatal period, a characteristic facial appearance and certain skeletal features. It was first described by Weaver in 1974.

It can be associated with NSD1. A second gene Histone-lysine N-methyltransferase has also been associated with this disease.

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