Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone

Atypical teratoid/rhabdoid tumors (AT/RTs) in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene located in chromosome 22q11.2. Although rarely, it can also result from the constitutional ring chromosome 22 (r22): during mitosis the ring chrom...

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Detalles Bibliográficos
Autores principales: Crocco, Marco, Panciroli, Marta, Milanaccio, Claudia, Morerio, Cristina, Verrico, Antonio, Garrè, Maria Luisa, Di Iorgi, Natascia, Capra, Valeria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585933/
https://www.ncbi.nlm.nih.gov/pubmed/34777208
http://dx.doi.org/10.3389/fneur.2021.741062

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8585933/
https://www.ncbi.nlm.nih.gov/pubmed/34777208
http://dx.doi.org/10.3389/fneur.2021.741062

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