Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene

Fertility and Sterility

Volumn 90, Issue 5, 2008, Pages 2008.e1-2008.e4

  Galani, Angeliki ^a   Sofocleous, Christalena ^a   Karahaliou, Feneli ^b   Papathanasiou, Asteroula ^b   Kitsiou Tzeli, Sofia ^a   Kalpini Mavrou, Ariadni ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

Author keywords

Androgen receptor; c.2494delA; c.T3004C; CAIS; M llerian duct remnants; novel mutation

Indexed keywords

ANDROGEN RECEPTOR; BOLDENONE; FOLLITROPIN; GENOMIC DNA;

ADOLESCENT; ANDROGEN BLOOD LEVEL; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BINDING SITE; CANCER PREVENTION; CASE REPORT; CHROMOSOME ANALYSIS; ECHOGRAPHY; FAMILY HISTORY; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC ASSOCIATION; GENETIC COUNSELING; GONADECTOMY; HETEROZYGOTE; HORMONE DETERMINATION; HORMONE SUBSTITUTION; HUMAN; HUMAN TISSUE; INGUINAL HERNIA; KARYOTYPE 46,XY; LAPAROTOMY; LIGAND BINDING; MISSENSE MUTATION; MUELLERIAN DUCT; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEX TRANSFORMATION; TESTIS; UROGENITAL TRACT RADIOGRAPHY;

EID: 55149108353     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.01.030     Document Type: Article

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