Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Human Molecular Genetics

Volumn 15, Issue 9, 2006, Pages 1413-1422

  Williamson, Kathleen A ^a   Hever, Ann M ^a   Rainger, Joe ^a   Rogers, R Curtis ^d   Magee, Alex ^b   Fiedler, Zdenek ^c   Keng, Wee Teik ^a   Sharkey, Freddie H ^a   McGill, Niolette ^a   Hill, Clare J ^e   Schneider, Adele ^f   Messina, Mario ^g   Turnpenny, Peter D ^h   Fantes, Judy A ^a   van Heyningen, Veronica ^a   FitzPatrick, David R ^a  

^a WESTERN GENERAL HOSPITAL   (United Kingdom)

^b BELFAST CITY HOSPITAL   (United Kingdom)

^c UNIVERSITY OF PARDUBICE   (Czech Republic)

^d GREENWOOD GENETIC CENTER   (United States)

^e UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^f ALBERT EINSTEIN MEDICAL CENTER   (United States)

^g UNIVERSITY OF SIENA   (Italy)

^h PENINSULA MEDICAL SCHOOL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DELTA CRYSTALLIN; TRANSCRIPTION FACTOR SOX2;

ANOPHTHALMIA; ARTICLE; CHICK; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION 3; CHROMOSOME TRANSLOCATION 7; CLINICAL ARTICLE; CONTROLLED STUDY; DNA BINDING; EMBRYO; ENHANCER REGION; ESOPHAGUS MALFORMATION; EYE DEVELOPMENT; FEMALE; GENE ACTIVATION; GENE DELETION; GENE MUTATION; GENETIC PROCEDURES; GENITAL MALFORMATION; HUMAN; HUMAN EMBRYO; HUMAN TISSUE; INTESTINE; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; ORGANOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SYNDROME; TRANSCRIPTION REGULATION;

ANIMALS; ANOPHTHALMOS; CHICKENS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ESOPHAGUS; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENITALIA, MALE; HMGB PROTEINS; HUMANS; MALE; MICE; POINT MUTATION; SYNDROME; TRANSCRIPTION FACTORS; ZEBRAFISH;

DANIO RERIO;

EID: 33646162880     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl064     Document Type: Article

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