Complications for a Hoyeraal–Hreidarsson Syndrome Patient with a Germline DKC1 A353V Variant Undergoing Unrelated Peripheral Blood Stem Cell Transplantation

Hoyeraal–Hreidarsson syndrome (HHS), caused by several different germline mutations resulting in severe telomeropathy, presents with early-onset growth anomalies and neurologic/developmental disorders including characteristic cerebellar hypoplasia. Early mortalities may arise from immunodeficiency a...

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Detalles Bibliográficos
Autores principales: Chen, Rong-Long, Lin, Kuanyin K, Chen, Liuh-Yow
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6651050/
https://www.ncbi.nlm.nih.gov/pubmed/31269755
http://dx.doi.org/10.3390/ijms20133261

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6651050/
https://www.ncbi.nlm.nih.gov/pubmed/31269755
http://dx.doi.org/10.3390/ijms20133261

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