Clinical spectrum of SIX3-associated mutations in holoprosencephaly: Correlation between genotype, phenotype and function

Journal of Medical Genetics

Volumn 46, Issue 6, 2009, Pages 389-398

  Lacbawan, F ^a,b   Solomon, B D ^a   Roessler, E ^a   El Jaick, K ^a   Domene S ^a   Velez J I ^a   Zhou, N ^a   Hadley, D ^a   Balog, J Z ^a   Long, R ^a   Fryer, A ^c   Smith, W ^d   Omar, S ^e   McLean, S D ^f   Clarkson, K ^g   Lichty, A ^g   Clegg, N J ^h   Delgado, M R ^h   Levey, E ⁱ   Stashinko, E ⁱ   Potocki, L ^j   VanAllen, M I ^k   Clayton Smith, J ^l   Donnai, D ^l   Bianchi, D W ^m   Juliusson, P B ⁿ   Njolstad P R ^n,o   Brunner, H G ^p   Carey, J C ^q   Hehr, U ^r   Musebeck J ^s   Wieacker, P F ^t   Postra, A ^u   Hennekam, R C M ^v   Van Den Boogaard, M J H ^w   Van Haeringen, A ^x   Paulussen, A ^y   Herbergs, J ^y   Schrander Stumpel, C T R M ^y   Janecke, A R ^z   Chitayat, D ^aa   Hahn, J ^ab   McDonald McGinn, D M ^ac   Zackai, E H ^ac   Dobyns, W B ^ad   Muenke, Maximilian ^a   more..

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

^c ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^d MAINE MEDICAL CENTER   (United States)

^e MICHIGAN STATE UNIVERSITY   (United States)

^f SAN ANTONIO MILITARY MEDICAL CENTER   (United States)

^g GREENWOOD GENETIC CENTER   (United States)

^h UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

ⁱ JOHNS HOPKINS UNIVERSITY   (United States)

^j TEXAS CHILDREN S HOSPITAL   (United States)

^k UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^l UNIVERSITY OF MANCHESTER   (United Kingdom)

^m TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁿ HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^o UNIVERSITY OF BERGEN   (Norway)

^p RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^q UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

^r UNIVERSITY OF REGENSBURG   (Germany)

^s UNIVERSITY OF BREMEN   (Germany)

^t UNIVERSITY OF MÜNSTER   (Germany)

^u ACADEMIC MEDICAL CENTER   (Netherlands)

^v UNIVERSITY COLLEGE LONDON   (United Kingdom)

^w UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^x LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^y MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^z INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^aa MOUNT SINAI HOSPITAL   (Canada)

^ab STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ac CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^ad UNIVERSITY OF CHICAGO   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SIX3;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; EXTRACHROMOSOMAL INHERITANCE; FAMILY; FATHER; FEMALE; FUNCTIONAL ASSESSMENT; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HOLOPROSENCEPHALY; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PENETRANCE; PRIORITY JOURNAL; SEX DIFFERENCE; ZEBRA FISH;

CHI-SQUARE DISTRIBUTION; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PENETRANCE; PHENOTYPE; SEX FACTORS;

ANIMALIA; DANIO RERIO; VERTEBRATA;

EID: 67449132620     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.063818     Document Type: Article

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