Severe visual impairment and retinal changes in a boy with a deletion of the gene for Nance-Horan syndrome.

Bulletin de la Société belge d'ophtalmologie

Volumn , Issue 305, 2007, Pages 49-53

  Mathys, R ^a   Deconinck, H ^a   Keymolen, K ^a   Jansen, A ^a   Van Esch, H ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CDKL5 PROTEIN, HUMAN; NHS PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CATARACT; FALLOT TETRALOGY; FATALITY; GENE DELETION; GENETICS; HUMAN; INFANT; MALE; MICROPHTHALMIA; MULTIPLE MALFORMATION SYNDROME; SYNDROME; X CHROMOSOME;

ABNORMALITIES, MULTIPLE; CATARACT; CHROMOSOMES, HUMAN, X; FATAL OUTCOME; GENE DELETION; HUMANS; INFANT; MALE; MICROPHTHALMOS; NUCLEAR PROTEINS; PROTEIN-SERINE-THREONINE KINASES; SYNDROME; TETRALOGY OF FALLOT;

EID: 38449084484     PISSN: 00810746     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (0)