Genetics

Rare mutation causes vitamin A deficiency and eye deformities

Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families, and possibly others, for generations. These families have been plagued by a variety of congenital ...

Genetics

Compound inheritance ID'd in cases of congenital scoliosis

(HealthDay)—In a case series of Han Chinese persons, compound inheritance of a rare null mutation and a hypomorphic allele accounted for a proportion of congenital scoliosis cases. These findings were published online Jan. ...

Genetics

Two new genes linked to intellectual disability

Researchers at the Centre for Addiction and Mental Health have discovered two new genes linked to intellectual disability, according to two research studies published concurrently this month in the journals Human Genetics ...

Ophthalmology

Review identifies risk factors for comitant strabismus

(HealthDay)—Risk factors for strabismus include low birth weight, prematurity, retinopathy of prematurity, smoking during pregnancy, anisometropia, hyperopia, and genetic factors, according to a review published online ...

Autism spectrum disorders

Adding up autism risks

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that ...

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