Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

American Journal of Human Genetics

Volumn 82, Issue 5, 2008, Pages 1178-1184

  Schorderet, Daniel F ^a,b,c   Nichini, Olivia ^a,b   Boisset, Gaëlle ^a,b   Polok, Bozena ^a   Tiab, Leila ^a   Mayeur, Hélène ^d   Raji, Bahija ^d   de la Houssaye, Gauillaume ^d   Abitbol, Marc M ^d   Munier, Francis L ^b,e  

^a Institut de Recherche en Ophtalmologie   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c EPFL   (Switzerland)

^d Faculty of Medicine   (France)

^e JULES GONIN EYE HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; ZEBRAFISH PROTEIN;

ARTICLE; CATARACT; COLOBOMA; CONSANGUINITY; CORNEA DISEASE; EXON; EXTERNAL EAR MALFORMATION; EYE MALFORMATION; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC SCREENING; HOMEOBOX; HOMOZYGOSITY; HUMAN; MALE; MICROCORNEA; MICROPHTHALMIA; NKX5 3 GENE; NUCLEOTIDE SEQUENCE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA CONE; RETINA ROD; SCHOOL CHILD;

AGED; ANIMALS; CONSANGUINITY; EAR; EMBRYO, MAMMALIAN; EMBRYO, NONMAMMALIAN; EYE ABNORMALITIES; FEMALE; FETUS; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; ORGAN SPECIFICITY; PEDIGREE; SYNDROME; TRANSCRIPTION FACTORS; ZEBRAFISH;

DANIO RERIO;

EID: 42749084464     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.03.007     Document Type: Article

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