CHARGE syndrome: A review

Journal of Paediatrics and Child Health

Volumn 50, Issue 7, 2014, Pages 504-511

  Hsu, Peter ^a   Ma, Alan ^a   Wilson, Meredith ^a   Williams, George ^b   Curotta, John ^a   Munns, Craig F ^a   Mehr, Sam ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b St George Private Hospital   (Australia)

Author keywords

behavioural; endocrinology; ENT; genetics; immunology

Indexed keywords

ANTIBIOTIC AGENT; IMMUNOGLOBULIN; IMMUNOGLOBULIN E; PROTEIN; PROTEIN CHD 7; UNCLASSIFIED DRUG; CHD7 PROTEIN, HUMAN; DNA BINDING PROTEIN; DNA HELICASE; GENETIC MARKER;

ANOSMIA; ANTIBIOTIC PROPHYLAXIS; AUDIOMETRY; AUDITORY TUBE DYSFUNCTION; AUTOSOMAL DOMINANT INHERITANCE; BULBAR PARALYSIS; CHOANA ATRESIA; CLEFT LIP; CLINICAL ASSESSMENT; CLINICAL FEATURE; COLOBOMA; CONDUCTION DEAFNESS; CONGENITAL HEART MALFORMATION; CRANIAL NERVE; CRYPTORCHISM; ECHOCARDIOGRAPHY; EYE DISEASE; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GESTURE; GROWTH RETARDATION; HAPLOINSUFFICIENCY; HUMAN; HYDRAMNIOS; HYPERPROLACTINEMIA; HYPOGONADOTROPIC HYPOGONADISM; HYPOTHYROIDISM; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOGLOBULIN DEFICIENCY; KIDNEY DUPLICATION; KIDNEY MALFORMATION; LYMPHOCYTOPENIA; MICROPENIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; PEDIATRICIAN; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; PSYCHOSOCIAL WITHDRAWAL; REVIEW; SIGN LANGUAGE; SLEEP DISORDERED BREATHING; SOMNOLENCE; SPEECH THERAPY; SUBGLOTTIC STENOSIS; SYNDROME CHARGE; THYMUS APLASIA; TRACHEOMALACIA; UPPER RESPIRATORY TRACT; CHARGE SYNDROME; GENETIC MARKER; GENETICS; MUTATION;

CHARGE SYNDROME; DNA HELICASES; DNA-BINDING PROTEINS; GENETIC MARKERS; HUMANS; MUTATION;

EID: 84904069892     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/jpc.12497     Document Type: Review

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