11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: A case report

Molecular Cytogenetics

Volumn 2, Issue 1, 2009, Pages

  Almind, Gitte J ^a   Brøndum Nielsen, Karen ^a   Bangsgaard, Regitze ^b   Baekgaard, Peter ^b   Grønskov, Karen ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6;

ADOLESCENT; ARTICLE; ASTIGMATISM; CASE REPORT; CATARACT; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CRYPTORCHISM; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENITAL MALFORMATION; HUMAN; HYPOSPADIAS; MALE; MENTAL DEFICIENCY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPIA; POTOCKI SHAFFER SINDROME; PRIORITY JOURNAL; PTOSIS; SEIZURE; WAGR SYNDROME; WEIGHT GAIN; WT1 GENE;

EID: 63449116753     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-2-6     Document Type: Article

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