CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: A comparison of immunologic and nonimmunologic phenotypic features

Pediatrics

Volumn 123, Issue 5, 2009, Pages

  Jyonouchi, Soma ^a   McDonald McGinn, Donna M ^a   Bale, Sherri ^b   Zackai, Elaine H ^a   Sullivan, Kathleen E ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b GENEDX   (United States)

Author keywords

CHARGE syndrome; CHD7; Chromosome 22q11.2 deletion; DiGeorge syndrome; Hypocalcemia; Immunodeficiency; SCID; T cell; TBX 1; Thymus; Velocardiofacial syndrome

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMORAL IMMUNITY; HYPOCALCEMIA; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; INCIDENCE; INFANT; LYMPHOCYTOPENIA; MALE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SYNDROME CHARGE; T LYMPHOCYTE;

ABNORMALITIES, MULTIPLE; ANTIBODY FORMATION; CHILD; CHILD, PRESCHOOL; CHOANAL ATRESIA; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; COLOBOMA; DNA HELICASES; DNA-BINDING PROTEINS; FACIAL NERVE DISEASES; FEMALE; FLOW CYTOMETRY; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; MALE; PHENOTYPE; RETROSPECTIVE STUDIES; SYNDROME; TRACHEOESOPHAGEAL FISTULA;

EID: 66049158683     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2008-3400     Document Type: Article

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