OTX2 duplication is implicated in hemifacial microsomia

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Zielinski, Dina ^a   Markus, Barak ^a   Sheikh, Mona ^a   Gymrek, Melissa ^a,b,c,d   Chu, Clement ^e   Zaks, Marta ^f   Srinivasan, Balaji ^e   Hoffman, Jodi D ^g   Aizenbud, Dror ^f   Erlich, Yaniv ^a  

^a WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e Counsyl ^*  (United States)

^f Rambam Health Care Campus ^*  (Israel)

^g TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CAUSAL ATTRIBUTION; CHILD; CHROMOSOME 14Q; CHROMOSOME DUPLICATION; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FEMALE; GENE; GENE DOSAGE; GENE DUPLICATION; GENE FUNCTION; GENE IDENTIFICATION; GENE REGULATORY NETWORK; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOME ANALYSIS; HEMIFACIAL MICROSOMIA; HUMAN; MEDULLOBLASTOMA; MUTATIONAL ANALYSIS; OTX2 GENE; PEDIGREE ANALYSIS; POINT MUTATION; PREDICTIVE VALUE; PRESCHOOL CHILD; ANIMAL; CHROMOSOME 14; EXON; GENETICS; GOLDENHAR SYNDROME; MALE; MOUSE;

OTX2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR OTX;

ANIMALS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 14; DNA COPY NUMBER VARIATIONS; EXONS; FEMALE; GENE DUPLICATION; GOLDENHAR SYNDROME; HUMANS; MALE; MICE; OTX TRANSCRIPTION FACTORS;

EID: 84901236350     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0096788     Document Type: Article

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