Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes

Kabuki syndrome is a well-recognized syndrome characterized by facial dysmorphism and developmental delay/intellectual disability and in the majority of patients a germline variant in KMT2D is found. As somatic KMT2D variants can be found in 5–10% of tumors a tumor predisposition in Kabuki syndrome...

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Detalles Bibliográficos
Autores principales: Aukema, Sietse M., Glaser, Selina, van den Hout, Mari F. C. M., Dahlum, Sonja, Blok, Marinus J., Hillmer, Morten, Kolarova, Julia, Sciot, Raf, Schott, Dina A., Siebert, Reiner, Stumpel, Constance T. R. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9829644/
https://www.ncbi.nlm.nih.gov/pubmed/35856126
http://dx.doi.org/10.1007/s10689-022-00306-z

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