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Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495G> T p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects.
Pomahacova, Renata; Zamboryova, Jana; Paterova, Petra; Krepelova, Anna; Subrt, Ivan; Jaklova, Radka; Vohradska, Petra; Hrdonkova, Eliska; Sykora, Josef.
Afiliação
  • Pomahacova R; Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
  • Zamboryova J; Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
  • Paterova P; Department of Pediatrics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
  • Krepelova A; Department of Biology and Medical Genetics, 2 nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic.
  • Subrt I; Institute of Medical Genetics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
  • Jaklova R; Institute of Medical Genetics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
  • Vohradska P; Institute of Medical Genetics, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
  • Hrdonkova E; Department of Gynecology, Faculty of Medicine in Pilsen, Charles University in Prague and Faculty Hospital, Pilsen, Czech Republic.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub ; 163(4): 379-382, 2019 Dec.
Article em En | MEDLINE | ID: mdl-30401990
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Síndrome de Resistência a Andrógenos / Receptores Androgênicos / Transferência Genética Horizontal / Desenvolvimento Fetal Tipo de estudo: Diagnostic_studies Aspecto: Ethics Limite: Female / Humans / Male Idioma: En Revista: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Assunto da revista: MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: República Tcheca País de publicação: República Tcheca
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Desenvolvimento Sexual / Síndrome de Resistência a Andrógenos / Receptores Androgênicos / Transferência Genética Horizontal / Desenvolvimento Fetal Tipo de estudo: Diagnostic_studies Aspecto: Ethics Limite: Female / Humans / Male Idioma: En Revista: Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub Assunto da revista: MEDICINA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: República Tcheca País de publicação: República Tcheca