OTX2 mutations contribute to the otocephaly-dysgnathia complex

Journal of Medical Genetics

Volumn 49, Issue 6, 2012, Pages 373-379

  Chassaing, Nicolas ^a,b,c   Sorrentino, Susanna ^d   Davis, Erica E ^e   Martin Coignard, Dominique ^f   Iacovelli, Anthony ^d   Paznekas, William ^d   Webb, Bryn D ^d   Faye Petersen, Ona ^g   Encha Razavi, Férechté ^f   Lequeux, Leopoldine ^a   Vigouroux, Adeline ^a   Yesilyurt, Ahmet ^h   Boyadjiev, Simeon A ⁱ   Kayserili, Hülya ^j   Loget, Philippe ^k   Carles, Dominique ^l   Sergi, Consolato ^m,n   Puvabanditsin, Surasak ^o   Chen, Chih Ping ^p,q,r   Etchevers, Heather C ^b,c   Katsanis, Nicholas ^e   Mercer, Catherine L ^s   Calvas, Patrick ^a,b,c   Jabs, Ethylin Wang ^d   more..

^a CHU PURPAN   (France)

^b UNIVERSITÉ DE TOULOUSE   (France)

^c INSERM   (France)

^d MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f CH Le Mans ^*  (France)

^g University of Alabama at Birmingham   (United States)

^h Dr Zekai Tahir Burak Women Health Training and Research Hospital   (Turkey)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j ISTANBUL UNIVERSITY   (Turkey)

^k RENNES UNIVERSITY HOSPITAL   (France)

^l BORDEAUX UNIVERSITY HOSPITAL   (France)

^m UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

ⁿ MEDICAL UNIVERSITY OF INNSBRUCK   (Austria)

^o UNIVERSITY OF MEDICINE AND DENTISTRY OF NEW JERSEY   (United States)

^p MACKAY MEMORIAL HOSPITAL   (Taiwan)

^q ASIA UNIVERSITY   (Taiwan)

^r CHINA MEDICAL UNIVERSITY   (Taiwan)

^s UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANOPHTHALMIA; ARTICLE; BIRTH; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE EXACERBATION; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE REPRESSION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; HOLOPROSENCEPHALY; HUMAN; HUMAN TISSUE; IN VIVO GENE TRANSFER; LOSS OF FUNCTION MUTATION; MANDIBLE; NONHUMAN; NUCLEOTIDE SEQUENCE; OTOCEPHALY DYSGNATHIA COMPLEX; OTX2 GENE; PHENOTYPE; PRIORITY JOURNAL; REGULATORY MECHANISM; ZEBRA FISH;

ANIMALS; BASE SEQUENCE; DISEASE MODELS, ANIMAL; EMBRYO, NONMAMMALIAN; FEMALE; HOLOPROSENCEPHALY; HUMANS; JAW ABNORMALITIES; MOLECULAR SEQUENCE DATA; OTX TRANSCRIPTION FACTORS; PEDIGREE; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

DANIO RERIO;

EID: 84864080446     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100892     Document Type: Article

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