SOX2 anophthalmia syndrome

American Journal of Medical Genetics

Volumn 135 A, Issue 1, 2005, Pages 1-7

  Ragge, Nicola K ^a,b   Lorenz, Birgit ^c   Schneider, Adele ^d   Bushby, Kate ^e   De Sanctis, Luisa ^f   De Sanctis, Ugo ^f   Salt, Alison ^a   Collin, J Richard O ^a   Vivian, Anthony J ^g,h   Free, Samantha L ⁱ   Thompson, Pamela ⁱ   Williamson, Kathleen A ^j   Sisodiya, Sanjay M ⁱ   Van Heyningen, Veronica ^j   FitzPatrick, David R ^j  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d ALBERT EINSTEIN MEDICAL CENTER   (United States)

^e INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^f UNIVERSITY OF TURIN   (Italy)

^g WEST SUFFOLK HOSPITAL   (United Kingdom)

^h ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY OF EDINBURGH   (United Kingdom)

more..

Author keywords

Anophthalmia; Brain malformation; Developmental delay; Microgenitalia; Microphthalmia; Seizures; SOX2

Indexed keywords

ANOPHTHALMIA; ARTICLE; BRAIN MALFORMATION; CATARACT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CORNEA DISEASE; DYSPLASIA; EYE MALFORMATION; FACE DYSMORPHIA; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GROWTH DISORDER; HUMAN; LEARNING DISORDER; MALE; MALE GENITAL TRACT MALFORMATION; MICROPHTHALMIA; MISSENSE MUTATION; MOTOR DYSFUNCTION; OPTIC DISK ANOMALY; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; SOX2 GENE; SYNDROME DELINEATION; VISUAL ACUITY;

ADOLESCENT; ANOPHTHALMOS; CHILD; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HMGB PROTEINS; HUMANS; INFANT; MALE; MUTATION; SYNDROME; TRANSCRIPTION FACTORS;

EID: 20944448656     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30642     Document Type: Article

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