title: Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL.
authors.forename: Flavio
authors.initials: F
authors.lastname: Faletra
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Athanasakis
authors.forename: Federico
authors.initials: F
authors.lastname: Minen
authors.forename: Federico
authors.initials: F
authors.lastname: Fornasier
authors.forename: Federico
authors.initials: F
authors.lastname: Marchetti
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D002675:Child, Preschool; D002971:Cleft Lip; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities; D005260:Female; D005700:Galactosyltransferases / Q000235:genetics*; D005964:Glucosyltransferases / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D017354:Point Mutation; D013131:Spine / Q000002:abnormalities*
chemical_list: C514116:B3GLCT protein, human; D005700:Galactosyltransferases; D005964:Glucosyltransferases