Genetics

Vitamin B12 deficiency: Tracking the genetic causes

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, ...

Autism spectrum disorders

Mean depth of ultrasonographic penetration greater in autism

(HealthDay)—Children with autism spectrum disorder (ASD) have a significantly greater mean depth of ultrasonographic penetration, according to a study published online Feb. 12 in JAMA Pediatrics.

Genetics

New genetic syndrome tied to defects in protein transport

An international team of researchers has discovered the mutation responsible for a rare, newly identified genetic disorder that causes craniofacial abnormalities and developmental delays. The mutation disrupts normal protein ...

Genetics

Genetics researchers find new neurodevelopmental syndrome

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...

Genetics

Developmental delay could stem from nicotinic receptor deletion

The loss of a gene through deletion of genetic material on chromosome 15 is associated with significant abnormalities in learning and behavior, said a consortium of researchers led by Baylor College of Medicine in a report ...

Genetics

Medical mystery solved in record time

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in ...

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