Nonsyndromic bilateral and unilateral optic nerve aplasia: First familial occurrence and potential implication of CYP26A1 and CYP26C1 genes

Molecular Vision

Volumn 17, Issue , 2011, Pages 2072-2079

  Meire, Françoise ^a   Delpierre, Isabelle ^a   Brachet, Cecile ^a   Roulez, Françoise ^a   van Nechel, Christian ^b   Depasse, Fanny ^a   Christophe, Catherine ^a   Menten, Björn ^c   de Baere, Elfride ^c  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b ERASME HOSPITAL   (Belgium)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450;

APLASIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BELGIUM; CASE REPORT; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 10Q; CLINICAL EXAMINATION; CYP26A1 GENE; CYP26C1 GENE; DIAGNOSTIC VALUE; ENDOCRINOLOGY; EXOC6 GENE; FAMILIAL DISEASE; FEMALE; GENE; GENE DOSAGE; GENE MUTATION; GENETIC SCREENING; GENOME WIDE COPY NUMBER SCREENING; HUMAN; MALE; MICROPHTHALMIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; OPTIC NERVE APLASIA; OPTIC NERVE DISEASE; PAX6 GENE; PEDIGREE; PRIORITY JOURNAL; VISUAL SYSTEM EXAMINATION;

ASYMPTOMATIC DISEASES; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; CYTOCHROME P-450 ENZYME SYSTEM; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENE DOSAGE; GENES, DOMINANT; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MICROPHTHALMOS; MIDDLE AGED; MUTATION; NEUROIMAGING; OPTIC NERVE; PEDIGREE; PHENOTYPE; TRETINOIN; VISION TESTS;

EID: 79961220664     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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