title: DOOR syndrome: report of three additional cases.
abstract: Three new cases of DOOR syndrome are described in unrelated Brazilian children. One of these cases also has a congential cardiac defect. None of the cases has organic acid abnormalities and they can therefore be classified as Type II.
authors: Serviçio de Genética Médica, Hospital de Clinicas de Porto Alegre, Rio Grande do Sul, Brazil. tfelix@hcpa.ufrgs.br
authors: Têmis Maria
authors: TM
authors: Félix
authors: Simone
authors: S
authors: de Menezes Karam
authors: Valter Augusto
authors: VA
authors: Della Rosa
authors: Ana Maria S Machado
authors: AM
authors: Moraes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D003649:Decalcification, Pathologic / Q000235:genetics; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D018740:Genetic Heterogeneity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009264:Nails, Malformed; D013577:Syndrome; D014034:Toes / Q000473:pathology