Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development

European Journal of Human Genetics

Volumn 21, Issue 4, 2013, Pages 373-380

  Alvarado, David M ^a   Buchan, Jillian G ^a   Frick, Steven L ^b   Herzenberg, John E ^c   Dobbs, Matthew B ^a,d   Gurnett, Christina A ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Levine Children's Hospital   (United States)

^c SINAI HOSPITAL OF BALTIMORE   (United States)

^d SHRINERS HOSPITAL FOR CHILDREN   (United States)

Author keywords

microdeletion; microduplication; talipes equinovarus; transcription

Indexed keywords

CHROMODOMAIN PROTEIN 1; GLUTAMATE RECEPTOR 1; RIPPLY2 PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HOXC13; TRANSCRIPTION FACTOR PITX1; TRANSCRIPTION FACTOR TBX 4; UBIQUITOUSLY TRANSCRIBED TETRATRICOPEPTIDE REPEAT X CHROMOSOME; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 16P; CHROMOSOME 22Q; CHROMOSOME 2Q; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION; GENE ISOLATION; GENETIC ANALYSIS; GENETIC SCREENING; HINDLIMB; HUMAN; LIMB DEVELOPMENT; MAJOR CLINICAL STUDY; MALE; MUSCLE HYPOTONIA; PES EQUINOVARUS; PRIORITY JOURNAL; X CHROMOSOME;

ANIMALS; CASE-CONTROL STUDIES; CLUBFOOT; DNA COPY NUMBER VARIATIONS; EMBRYO, MAMMALIAN; FEMALE; FOOT; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENOME, HUMAN; HOMEODOMAIN PROTEINS; HUMANS; LIMB BUDS; MALE; MICE; PEDIGREE; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 84875052170     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.177     Document Type: Article

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