Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

Molecular Vision

Volumn 13, Issue , 2007, Pages 511-523

  Dansault, Anouk ^a   David, Gabriel ^b   Schwartz, Claire ^c   Jaliffa, Carolina ^a   Vieira, Véronique ^a   de la Houssaye, Guillaume ^a   Bigot, Karine ^a   Catin, Françise ^c   Tattu, Laurent ^c   Chopin, Catherine ^d   Halimi, Philippe ^e   Roche, Olivier ^a,f   Van Regemorter, Nicole ^g   Munier, Francis ^h   Schorderet, Daniel ⁱ   Dufier, Jean Louis ^a,f   Marsac, Cécile ^a   Ricquier, Daniel ^b   Menasche, Maurice ^a   Penfornis, Alfred ^c   Abitbol, Marc ^a,f   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b CNRS   (France)

^c UNIVERSITY HOSPITAL OF BESANÇON   (France)

^d Centre Hospitalier Louis Pasteur de Dole   (France)

^e HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g ERASME HOSPITAL   (Belgium)

^h JULES GONIN EYE HOSPITAL   (Switzerland)

ⁱ Institut de Recherche en Ophtalmologie   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; AMINO ACID; CYTOSINE; DNA; GLYCINE; GUANINE; LEUCINE; NUCLEOTIDE; PROLINE; SERINE; THYMINE; TRANSCRIPTION FACTOR PAX6;

ADOLESCENT; ADULT; AGED; ANIRIDIA; ARTICLE; BRAIN DEVELOPMENT; CATARACT; CHILD; COGNITIVE DEFECT; CONTROLLED STUDY; CRYSTALLOGRAPHY; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; DNA BINDING; EXON; EYE MALFORMATION; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MICROPHTHALMIA; NEUROLOGIC DISEASE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PETERS ANOMALY; PHENOTYPE; PRIORITY JOURNAL; STOP CODON;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGED; ANIRIDIA; ANTERIOR EYE SEGMENT; CATARACT; CHILD; CHILD, PRESCHOOL; EYE ABNORMALITIES; EYE PROTEINS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MICROPHTHALMOS; MIDDLE AGED; MUTATION; NERVOUS SYSTEM MALFORMATIONS; NYSTAGMUS, CONGENITAL; PAIRED BOX TRANSCRIPTION FACTORS; PHENOTYPE; REPRESSOR PROTEINS;

EID: 34047216158     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (35)

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