PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Nature Genetics

Volumn 28, Issue 3, 2001, Pages 214-216

  Sisodiya, Sanjay M ^a,b   Free, Samantha L ^a,b   Williamson, Kathleen A ^c   Mitchell, Tejal N ^a,b   Willis, Catherine ^d   Stevens, John M ^a,b   Kendall, Brian E ^b   Shorvon, Simon D ^a   Hanson, Isabel M ^c   Moore, Anthony T ^d,e   Van Heyningen, Veronica ^c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b EPILEPSY SOCIETY   (United Kingdom)

^c WESTERN GENERAL HOSPITAL   (United Kingdom)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ARTICLE; BRAIN DEVELOPMENT; BRAIN MALFORMATION; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN EXPRESSION; SMELLING; SMELLING DISORDER;

ADULT; ANIRIDIA; EYE PROTEINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVOUS SYSTEM MALFORMATIONS; OLFACTION DISORDERS; PAIRED BOX TRANSCRIPTION FACTORS; REPRESSOR PROTEINS; TELENCEPHALON;

EID: 0034938449     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/90042     Document Type: Article

References (14)