title: Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings.
authors.affiliation: Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
authors.forename: Cynthia
authors.initials: C
authors.lastname: Silveira
authors.affiliation: Professor Fernando Figueira Integral Medicine Institute (IMIP), Recife, Pernambuco, Brazil.
authors.forename: Gabriela F
authors.initials: GF
authors.lastname: Leal
authors.affiliation: Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil. denisepcavalcanti@gmail.com.
authors.forename: Denise P
authors.initials: DP
authors.lastname: Cavalcanti
mesh_terms: D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics* / Q000473:pathology; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009708:Nucleotidases / Q000235:genetics; D009999:Ossification, Heterotopic / Q000235:genetics* / Q000473:pathology; D010430:Pentosyltransferases / Q000235:genetics*; D017689:Polydactyly / Q000235:genetics* / Q000473:pathology; D000097608:UDP Xylose-Protein Xylosyltransferase
chemical_list: D009708:Nucleotidases; D010430:Pentosyltransferases; D000097608:UDP Xylose-Protein Xylosyltransferase; C551404:CANT1 protein, human