Výsledky vyhledávání - "Petra Vohradska"

Akademický článek

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

Autor: Renata Pomahacova, Jana Zamboryova, Petra Paterova, Anna Krepelova, Ivan Subrt, Radka Jaklova, Petra Vohradska, Eliska Hrdonkova, Josef Sykora

Publikováno v: Biomedical Papers, Vol 163, Iss 4, Pp 379-382 (2019)

Background: The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome

Externí odkaz: https://doaj.org/article/0332d4c50b394dc4aa42a5bae7d2cb0d

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Late diagnosis of complete androgen insensitivity syndrome and transmission/carriers of the condition in a family with mutation c.2495GT p.(Arg832Leu) in exon 7 of the androgen receptor gene: genetic, clinical and ethical aspects

Autor: Renata, Pomahacova, Jana, Zamboryova, Petra, Paterova, Anna, Krepelova, Ivan, Subrt, Radka, Jaklova, Petra, Vohradska, Eliska, Hrdonkova, Josef, Sykora

Publikováno v: Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia. 163(4)

The complete androgen insensitivity syndrome (CAIS) is a rare genetic disorder causing insensitivity to androgens in a person with female phenotype and 46,XY karyotype due to a mutation in the androgen receptor gene located on chromosome X. These chi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4b6a6d80d6c40b57b6ea9838ba40b1f1
https://pubmed.ncbi.nlm.nih.gov/30401990

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