Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation

Bloom syndrome is a rare autosomal recessive disorder with less than 300 cases reported in the literature. Bloom syndrome is characterized by chromosome instability, physical stigmata, growth deficiency, immunodeficiency, and a predisposition to cancer, most commonly leukemias, although solid tumors...

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Detalles Bibliográficos
Autores principales: Sybouts, Erin H., Brown, Adam D., Falcon-Cantrill, Maria G., Thomas, Martha H., DeNapoli, Thomas, Voeller, Julie, Chen, Yidong, Tomlinson, Gail E., Bishop, Alexander J.R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040734/
https://www.ncbi.nlm.nih.gov/pubmed/33832920
http://dx.doi.org/10.1101/mcs.a005751

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8040734/
https://www.ncbi.nlm.nih.gov/pubmed/33832920
http://dx.doi.org/10.1101/mcs.a005751

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