Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

PLoS Genetics

Volumn 9, Issue 3, 2013, Pages

  Verdin, Hannah ^a   D'haene, Barbara ^a   Beysen, Diane ^a   Novikova, Yana ^a   Menten, Björn ^a   Sante, Tom ^a   Lapunzina, Pablo ^b   Nevado, Julian ^b   Carvalho, Claudia M B ^c   Lupski, James R ^c   de Baere, Elfride ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIOINFORMATICS; BLEPHAROPHIMOSIS SYNDROME; BREAK INDUCED SERIAL REPLICATION SLIPPAGE; CHROMOSOME BREAKAGE; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA CONFORMATION; DNA END JOINING REPAIR; DNA REPLICATION; EYELID DISEASE; FORK STALLING AND TEMPLATE SWITCHING; FOXL2 GENE; GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENE STRUCTURE; GENETIC DISORDER; HUMAN; MICROHOMOLOGY MEDIATED BREAK INDUCED REPLICATION; MICROHOMOLOGY MEDIATED END JOINING; OVARY DISEASE; SEQUENCE HOMOLOGY; SYNDROME;

ALLELES; BLEPHAROPHIMOSIS; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA END-JOINING REPAIR; DNA REPAIR; FORKHEAD TRANSCRIPTION FACTORS; GENOME, HUMAN; HOMOLOGOUS RECOMBINATION; HUMANS; MENOPAUSE, PREMATURE; PROTEIN STRUCTURE, TERTIARY; SEQUENCE DELETION; SKIN ABNORMALITIES; TEMPLATES, GENETIC;

EID: 84875980851     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003358     Document Type: Article

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