Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the pres...

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Detalles Bibliográficos
Autores principales: Gawrychowska, Ada, Iżycka-Świeszewska, Ewa, Lipska-Ziętkiewicz, Beata S., Kuleszo, Dominika, Bautembach-Minkowska, Joanna, Łosin, Marcin, Stefanowicz, Joanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763800/
https://www.ncbi.nlm.nih.gov/pubmed/33321690
http://dx.doi.org/10.3390/diagnostics10121067

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7763800/
https://www.ncbi.nlm.nih.gov/pubmed/33321690
http://dx.doi.org/10.3390/diagnostics10121067

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