Complete androgen insensitivity syndrome caused by the R855H mutation in the androgen receptor gene

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 3, 2005, Pages 309-313

  Skordis, Nicos ^a,e   Lumbroso, Serge ^c   Perikleous, Maria ^a   Sismani, Carolina ^b   Patsalis, Philippos C ^b   Sultan, Charles ^d  

^a Archbishop Makarios III Hospital   (Cyprus)

^b CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^c DEPARTMENT OF NEUROLOGY   (France)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

^e Pediatric Endocrine Unit   (Cyprus)

Author keywords

Androgen insensitivity; Androgen receptor; Mutations

Indexed keywords

ADENINE; ANDROGEN RECEPTOR; ANDROSTANOLONE; ANDROSTENEDIONE; ARGININE; CHORIONIC GONADOTROPIN; GUANINE; HISTIDINE; PRASTERONE SULFATE; PRIMER DNA; TESTOSTERONE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BIOLOGICAL ACTIVITY; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CODON; CONSANGUINITY; EXON; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENETIC HETEROGENEITY; HERMAPHRODITISM; HERNIA; HETEROZYGOSITY; HUMAN; KARYOTYPE 46,XY; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PHASE TRANSITION; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN FUNCTION; PROVOCATION TEST; TESTIS; TESTOSTERONE BLOOD LEVEL;

EID: 15844384069     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2005.18.3.309     Document Type: Article

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