Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL

C.1020+1G>A

novel mutation

Peters plus syndrome

B3GALTL

vertebral schisi

Abnormalities, Multip...

Alternative Splicing

Child, Preschool

Cleft Lip

Consanguinity

Cornea

Female

Galactosyltransferase...

Glucosyltransferase

Growth Disorder

Human

Limb Deformities, Con...

Spine

Point Mutation

Ophthalmology

Pediatrics, Perinatol...

Genetics (clinical)