Molecular Studies of a Patient with Complete Androgen Insensitivity and a 47,XXY Karyotype

Journal of Pediatrics

Volumn 155, Issue 3, 2009, Pages 439-443

  Girardin, C M ^a   Deal, C ^a   Lemyre, E ^a   Paquette, J ^a   Lumbroso, R ^b   Beitel, L K ^b   Trifiro, M A ^b   Van Vliet, G ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; ANDROSTANOLONE; ANDROSTENEDIONE; CHORIONIC GONADOTROPIN; MICROSATELLITE DNA; TESTOSTERONE;

ANDROGEN INSENSITIVITY SYNDROME; ANDROSTENEDIONE BLOOD LEVEL; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CYTOGENETICS; EXON; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE MUTATION; GENE SEQUENCE; GONADECTOMY; HETEROZYGOSITY; HUMAN; KARYOTYPE 47,XXY; LABORATORY DIAGNOSIS; LANGUAGE DISABILITY; MOLECULAR GENETICS; PHENOTYPE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECEPTOR GENE; SEQUENCE ANALYSIS; SPEECH THERAPY; TESTOSTERONE BLOOD LEVEL; UNIPARENTAL DISOMY;

ANDROGEN-INSENSITIVITY SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; DNA; FEMALE; HETEROZYGOTE DETECTION; HUMANS; KARYOTYPING; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; RECEPTORS, ANDROGEN; SEX CHROMOSOME DISORDERS;

EID: 69249219068     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.02.052     Document Type: Article

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