Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.

doi:10.1016/j.hoc.2018.04.003

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Article

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.

Hematology/oncology clinics of North America - 1 Aug 2018

Agarwal Suneet

Abstract excerpt

Dyskeratosis congenita (DC) is a rare, inherited bone marrow failure (BMF) syndrome characterized by variable manifestations and ages of onset, and predisposition to cancer. DC is one of a spectrum of diseases caused by mutations in genes regulating telomere maintenance, collectively referred to as telomere biology disorders (TBDs). Hematologic disease is common in children with DC/TBD. Timely diagnosis of...

Topics

Anemia, Aplastic
Bone Marrow Diseases
Bone Marrow Failure Disorders
Child
Child, Preschool
Dyskeratosis Congenita
Genetic Predisposition to Disease
Hemoglobinuria, Paroxysmal
Humans
Mutation
Neoplasms
Telomere
Telomere Homeostasis

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PMID: 30047419
DOI: 10.1016/j.hoc.2018.04.003
PMCID: PMC7307713

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