Present limitations of molecular biological diagnostics in Gillespie syndrome;Gegenwärtige grenzen der molekularbiologischen diagnostik bei Gillespie-syndrom

Klinische Padiatrie

Volumn 213, Issue 2, 2001, Pages 47-49

  Kieslich, M ^a   Vanselow, K ^b   Wildhardt, G ^c   Gebhardt, B ^a   Weis, R ^a   Bohles H ^a  

^a GOETHE UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL FRANKFURT   (Germany)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Aniridia; Ataxia; Chromosome analysis; Congenital pulmonary stenosis; Gillespie syndrome; PAX6 gene; Retardation

Indexed keywords

ANIRIDIA; CASE REPORT; CEREBELLAR ATAXIA; CHILD; CHROMOSOME ABERRATION; CHROMOSOME TRANSLOCATION 11; CHROMOSOME TRANSLOCATION X; DIFFERENTIAL DIAGNOSIS; FEMALE; GENE MUTATION; GILLESPIE SYNDROME; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PULMONARY VALVE STENOSIS; REVIEW;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; IRIS; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MENTAL RETARDATION; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0035087772     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2001-12875     Document Type: Review

References (10)

1. Gillespie syndrome phenotype with a t(X;11) (p22.32;p12) de novo translocation
2. Gillespie-Syndrom (inkomplette Aniridie, cerebellare Ataxie und Oligophrenie)
3. Absence of PAX 6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia and mental retardation)
4. Aniridia, cerebellar ataxia and oligophrenia in siblings
5. Gillespie syndrome: A report on two further cases
6. Syndrome of partial aniridia, cerebellar ataxia and mental retardation - Gillespie syndrome
7. Gillespie syndrome reported as bilateral congenital mydriasis
8. Bilateral congenital mydriasis
9. Partial aniridia, cerebellar ataxia and mental deficiency (Gillespie syndrome) in two brothers