Mutation of the androgen receptor (R840S) in an Egyptian patient with partial androgen insensitivity syndrome: Review of the literature on the clinical expression of different R840 substitutions

Journal of Endocrinological Investigation

Volumn 27, Issue 1, 2004, Pages 57-60

  Mazen, I ^a   Lumbroso, S ^b   Abdel Ghaffar, S ^c,e   Salah, N ^c   Sultan, C ^b,d  

^a Cairo University   (Egypt)

^b LAPEYRONIE HOSPITAL   (France)

^c CAIRO UNIVERSITY   (Egypt)

^d HÔPITAL ARNAUD DE VILLENEUVE   (France)

^e NONE   (Egypt)

Author keywords

Ambiguous genitalia; Androgen insensitivity syndrome; Androgen receptor gene; Mutation

Indexed keywords

ANDROGEN; ANDROGEN RECEPTOR; ANDROSTANOLONE; ARGININE; LIGAND; SERINE; TESTOSTERONE;

AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BRAZIL; CASE REPORT; CHILD REARING; DATA ANALYSIS; DIAGNOSTIC TEST; EGYPT; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC TRANSCRIPTION; GENITAL MALFORMATION; HORMONE RESPONSE; HUMAN; IN VITRO STUDY; INJECTION; LABORATORY TEST; LIGAND BINDING; MALE; MEDICAL LITERATURE; PHENOTYPE; PRENATAL PERIOD; PRESCHOOL CHILD; PROTEIN DOMAIN; SEX DIFFERENTIATION; SIBLING; TRANSACTIVATION;

EID: 1542316220     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03350912     Document Type: Article

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