Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 315-320

  Uzumcu, Abdullah ^a,b   Karaman, Birsen ^a   Toksoy, Guven ^a,c   Uyguner, Z Oya ^a   Candan, Sukru ^a   Eris, Hacer ^a   Tatli, Burak ^a   Geckinli, Bilge ^c   Yuksel, Adnan ^a   Kayserili, Hulya ^a   Basaran, Seher ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b YEDITEPE UNIVERSITY   (Turkey)

^c Research Hospital   (Turkey)

Author keywords

Candidate gene; Facial palsy; Microdeletion; Moebius syndrome; Mutation screening; Short tandem repeat

Indexed keywords

FIBROBLAST GROWTH FACTOR 9; GLUTAMATE CYSTEINE LIGASE; TRANSCRIPTION FACTOR CDX2; VASCULOTROPIN RECEPTOR 1;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 13Q; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE LOCUS; GENE SEQUENCE; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; INFANT; MALE; MICROSATELLITE MARKER; MOEBIUS SYNDROME; MOLECULAR GENETICS; PRESCHOOL CHILD; SCHOOL CHILD;

ALLELES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; DATABASES, GENETIC; DNA; DNA PRIMERS; FACIAL PARALYSIS; FIBROBLAST GROWTH FACTOR 9; GENETIC MARKERS; GENETIC SCREENING; GENOTYPE; GLUTATHIONE SYNTHASE; HAPLOTYPES; HOMEODOMAIN PROTEINS; HOMOZYGOTE; HUMANS; MICROSATELLITE REPEATS; MOBIUS SYNDROME; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHYSICAL CHROMOSOME MAPPING; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 68949158614     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.05.003     Document Type: Article

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