Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

American Journal of Medical Genetics

Volumn 113, Issue 4, 2002, Pages 326-332

  Wuyts, Wim ^a   Roland, Dominique ^b   Lüdecke, Hermann Josef ^c   Wauters, Jan ^a   Foulon, Martine ^d   Van Hul, Wim ^a   Van Maldergem, Lionel ^b  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b Centre de Genetique Humaine   (Belgium)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d Centre Hospitalier Universitaire de Charleroi   (Belgium)

Author keywords

Bone; Exostoses; Hypertrichosis; Microdeletion syndrome

Indexed keywords

ARTICLE; BONE; BRAIN MALFORMATION; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 11; CHROMOSOME 8; EPILEPSY; EXT1 GENE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; GENETIC DISORDER; HEREDITARY MULTIPLE EXOSTOSIS; HETEROZYGOSITY; HUMAN; HYPERTRICHOSIS; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; ADOLESCENT; BRAIN; CHROMOSOME DELETION; CONGENITAL MALFORMATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY;

EXOSTOSIN 1; EXOSTOSIN-1; N ACETYLGLUCOSAMINYLTRANSFERASE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; BRAIN; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 8; EPILEPSY; EXOSTOSES, MULTIPLE HEREDITARY; HUMANS; HYPERTRICHOSIS; LANGER-GIEDION SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; N-ACETYLGLUCOSAMINYLTRANSFERASES;

EID: 1842865325     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10845     Document Type: Article

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