Kohlschutter syndrome in siblings

Clinical Dysmorphology

Volumn 14, Issue 3, 2005, Pages 123-126

  Donnai, Dian ^a   Tomlin, P I ^b   Winter, R M ^c  

^a ST MARY S HOSPITAL   (United Kingdom)

^b ROYAL PRESTON HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Amelogenesis imperfecta; Epilepsy; Mental retardation

Indexed keywords

GLUTAMINE;

ADOLESCENT; AMELOGENESIS IMPERFECTA; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DEGENERATIVE DISEASE; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; ELECTRORETINOGRAM; ENAMEL; FAMILY; FEMALE; HUMAN; HUMAN TISSUE; INTRACTABLE EPILEPSY; KARYOTYPE 46,XY; KOHLSCHUTTER SYNDROME; MALE; MENTAL DEFICIENCY; MUSCLE BIOPSY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RARE DISEASE; SIBLING;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMELOGENESIS IMPERFECTA; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DENTAL ENAMEL HYPOPLASIA; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; MALE; SIBLINGS; SYNDROME;

EID: 21244467902     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200507000-00003     Document Type: Article

References (8)

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