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

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

Hoyeraal&#8722;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 immunode...

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Bibliographic Details
Main Authors: Rong-Long Chen, Kuanyin K Lin, Liuh-Yow Chen
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:International Journal of Molecular Sciences
Subjects:
dyskeratosis congenita
Hoyeraal–Hreidarsson syndrome
portal hypertension
pulmonary arteriovenous shunts
reduced intensity conditioning
telomeropathy
unrelated peripheral blood stem cell transplantation
vascular aging
Online Access:https://www.mdpi.com/1422-0067/20/13/3261

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https://www.mdpi.com/1422-0067/20/13/3261

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