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A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

Patients with disorders of sex development (DSD), especially those with gonadal dysgenesis and hypovirilization, are at risk of developing the so-called type II germ cell tumors (GCTs). Both carcinoma in situ and gonadoblastoma (GB) can be the precursor lesion, resulting in a seminomatous or non-sem...

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Autores principales: Hersmus, Remko, de Leeuw, Bertie HCGM, Stoop, Hans, Bernard, Pascal, van Doorn, Helena C, Brüggenwirth, Hennie T, Drop, Stenvert LS, Oosterhuis, J Wolter, Harley, Vincent R, Looijenga, Leendert HJ
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2009
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987026/
https://ncbi.nlm.nih.gov/pubmed/19513096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.96
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