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 ...

Health

Palm-sized baby among the world's smallest

At birth, Melinda Star Guido was so tiny she could fit into the palm of her doctor's hand. Weighing just 9 1/2 ounces - less than a soda can - she is among the smallest babies ever born in the world.

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, ...

Autism spectrum disorders

Autistic children more likely to have GI issues in early life

Scientists at Columbia University's Mailman School of Public Health report that children with autism spectrum disorder (ASD) were two-and-a-half times more likely to have persistent gastrointestinal (GI) symptoms as infants ...

Genetics

Study identifies genetic change in autism-related gene

A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal ...

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