Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor

Clinical Genetics

Volumn 65, Issue 3, 2004, Pages 183-190

  Hooper, H T ^a   Figueiredo, B C ^b   Pavan Senn, C C ^b   De Lacerda, L ^b   Sandrini, R ^b   Mengarelli, J K ^b   Japp, K ^b   Karaviti, Lefkothea P ^c  

^a NORTHUMBRIA UNIVERSITY   (United Kingdom)

^b FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Androgen receptor; Androgen insensitivity syndrome; Gender identity; Genotype phenotype discordance; Polymerase chain reaction; Sex assignment

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; CYSTEINE; GENOMIC DNA; GUANINE; NUCLEOTIDE; PHENYLALANINE; TESTOSTERONE; THYMINE; ZINC FINGER PROTEIN;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BRAZIL; BREAST DEVELOPMENT; CLINICAL ARTICLE; COMMUNITY; CONTROLLED STUDY; CULTURAL FACTOR; DNA BINDING; DNA SEQUENCE; DNA TRANSCRIPTION; EXON; FAMILY STUDY; FEMALE; FEMALE INFERTILITY; FEMININITY; FEMINIZATION; GENDER IDENTITY; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GERMANY; HAIR GROWTH; HETEROZYGOTE; HUMAN; INFORMED CONSENT; INTEGRATION; KARYOTYPE; LABORATORY TEST; MENSTRUATION DISORDER; OBESITY; OUTPATIENT DEPARTMENT; PEDIATRIC HOSPITAL; PHENOTYPE; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PSYCHOLOGICAL ASPECT; SEXUAL BEHAVIOR; SOCIAL ASPECT; UNIVERSITY HOSPITAL; X CHROMOSOME; Y CHROMOSOME;

ADOLESCENT; ANDROGEN-INSENSITIVITY SYNDROME; BRAZIL; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENDER IDENTITY; GERMANY; HUMANS; MALE; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, ANDROGEN;

EID: 1242330807     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00197.x     Document Type: Article

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