Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

European Journal of Pediatrics

Volumn 167, Issue 3, 2008, Pages 341-345

  Joss, Shelagh K ^a   Ghazawy, Sam ^b   Tomkins, Susan ^a   Ahmed, Mushtaq ^a   Bradbury, John ^b   Sheridan, Eamonn ^a  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b BRADFORD ROYAL INFIRMARY   (United Kingdom)

Author keywords

Autosomal; Dysplasia; Neurological; Ocular; Oculodentodigital; ODDD; Phenotype; Recessive

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CATARACT; CLINICAL ASSESSMENT; COMPUTER ASSISTED TOMOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MICROPHTHALMIA; NEUROLOGIC EXAMINATION; OCULODENTODIGITAL SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIODIAGNOSIS; VISUAL ACUITY;

ABNORMALITIES, MULTIPLE; BRAIN; CHILD, PRESCHOOL; CODON, NONSENSE; EYE ABNORMALITIES; FACIES; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; PHENOTYPE; TOOTH ABNORMALITIES;

EID: 39049116483     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-007-0468-1     Document Type: Article

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