Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: Clinical presentation and molecular investigation by array-CGH

Journal of Human Genetics

Volumn 55, Issue 11, 2010, Pages 761-763

  Kaliakatsos, Marios ^a   Giannakopoulos, Aristeidis ^a   Fryssira, Helena ^a   Kanariou, Maria ^b   Skiathitou, Anna Venetia ^a   Siahanidou, Tania ^a   Giannikou, Krinio ^a   Makrythanasis, Periklis ^a,c   Kanavakis, Emmanuel ^a,b   Tzetis, Maria ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^c GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

aCGH; CHARGE syndrome; DiGeorge syndrome; T cell immunodeficiency

Indexed keywords

ALFACALCIDOL; ANTIBIOTIC AGENT; CALCIUM; CARRIER PROTEIN; IMMUNOGLOBULIN; PROTEIN TYROSINE KINASE;

ALOPECIA; APOPTOSIS; ARTICLE; CASE REPORT; CESAREAN SECTION; CHEMOPROPHYLAXIS; CHROMODOMAIN HELICASE DNA BINDING DOMAIN GENE; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONCURRENT INFECTION; CONGENITAL MALFORMATION; COPY NUMBER VARIATION; DEATH; DIGEORGE SYNDROME; ERYTHRODERMA; FATTY ACID DESATURATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; GESTATIONAL AGE; HUMAN; HYPOCALCEMIA; INFANT; LARYNGOMALACIA; MICROLARYNGOSCOPY; OMENN SYNDROME; OXYGEN SUPPLY; PHENOTYPE; RECEPTOR DOWN REGULATION; RECURRENT INFECTION; RESPIRATORY FUNCTION; RESPIRATORY TRACT INFECTION; SEPTICEMIA; SEQUENCE ANALYSIS; SUBSTITUTION THERAPY; SYNDROME CHARGE; TRACHEOTOMY;

CHARGE SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; DIGEORGE SYNDROME; DNA HELICASES; DNA-BINDING PROTEINS; FATAL OUTCOME; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROTEINS; SEQUENCE DELETION; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 78649493570     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.95     Document Type: Article

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