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A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family.
Mazen, Inas; Soliman, Hala; El-Gammal, Mona; Torky, Ahmed; Mekkawy, Mona; Abdel-Hamid, Mohamed S; Essawi, Mona.
Affiliation
  • Mazen I; Department of Clinical Genetics, National Research Centre, Cairo, Egypt.
Horm Res Paediatr ; 82(6): 411-4, 2014.
Article in En | MEDLINE | ID: mdl-25034089
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Androgen-Insensitivity Syndrome / Receptors, Androgen / Frameshift Mutation / Gonadal Dysgenesis, 46,XY Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Country/Region as subject: Africa Language: En Journal: Horm Res Paediatr Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2014 Document type: Article Affiliation country: Egypt Country of publication: Switzerland
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Androgen-Insensitivity Syndrome / Receptors, Androgen / Frameshift Mutation / Gonadal Dysgenesis, 46,XY Type of study: Prognostic_studies Limits: Child, preschool / Female / Humans / Male Country/Region as subject: Africa Language: En Journal: Horm Res Paediatr Journal subject: ENDOCRINOLOGIA / PEDIATRIA Year: 2014 Document type: Article Affiliation country: Egypt Country of publication: Switzerland