Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL. - Faletra, Flavio; Athanasakis, Emmanouil; Minen, Federico; Fornasier, Federico; Marchetti, Federico; Gasparini, Paolo (Ophthalmic Genet, 2011)
Keywords: Abnormalities, Multiple; Alternative Splicing; Child, Preschool; Cleft Lip; Consanguinity; Cornea; Female; Galactosyltransferases; Glucosyltransferases; Growth Disorders; Humans; Limb Deformities, Congenital; Point Mutation; Spine