A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

Molecular vision

Volumn 15, Issue , 2009, Pages 2442-2447

  Henderson, Robert H ^a   Williamson, Kathleen A ^a   Kennedy, Joanna S ^a   Webster, Andrew R ^a   Holder, Graham E ^a   Robson, Anthony G ^a   FitzPatrick, David R ^a   van Heyningen, Veronica ^a   Moore, Anthony T ^a  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

OTX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR OTX;

ARTICLE; CASE REPORT; CHILD; ELECTRORETINOGRAPHY; EYE FUNDUS; GENETICS; HUMAN; HYPOPHYSIS DISEASE; INFANT; MALE; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; RETINA DISEASE; STOP CODON; UNITED KINGDOM;

AGE OF ONSET; BASE SEQUENCE; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FUNDUS OCULI; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; OTX TRANSCRIPTION FACTORS; PHENOTYPE; PITUITARY DISEASES; RETINAL DISEASES; SCOTLAND;

EID: 73449095474     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (0)