Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia

European Journal of Human Genetics

Volumn 15, Issue 8, 2007, Pages 898-901

  Henderson, R Alex ^a   Williamson, Kathy ^b   Cumming, Sally ^c   Clarke, Michael P ^a   Lynch, Sally Ann ^a   Hanson, Isabel M ^d   FitzPatrick, David R ^b   Sisodiya, Sanjay ^e   van Heyningen, Veronica ^b  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b WESTERN GENERAL HOSPITAL   (United Kingdom)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEAR FACTOR I; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR PAX6;

ANIRIDIA; ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; FEMALE; HEREDITY; HUMAN; HYPERMETROPIA; IRIS; LEBER CONGENITAL AMAUROSIS; MICROCEPHALY; MICROPHTHALMIA; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PHENOTYPE; PINEAL BODY DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; VISUAL ACUITY;

AMINO ACID SUBSTITUTION; ANIRIDIA; CHILD, PRESCHOOL; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICROPHTHALMOS; NEUROFIBROMIN 1; OTX TRANSCRIPTION FACTORS; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REPRESSOR PROTEINS;

EID: 34547162908     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201826     Document Type: Article

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