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Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

American Journal of Human Genetics

Mar 5, 2013

Amanda J WalneI Dokal

Abstract

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using ...read more

Mentioned in this Paper

Fanconi Anemia
Leukoplakia, Oral
Bloom Syndrome
Immunologic Deficiency Syndromes
Exons
Genome
DNA Repair
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Telomere Shortening
Werner Syndrome
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72
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Paper Details
References
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  • Citations72
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Constitutional mutations in RTEL1 cause severe dyskeratosis congenita

American Journal of Human Genetics

Mar 5, 2013

Amanda J WalneI Dokal

PMID: 23453664

DOI: 10.1016/j.ajhg.2013.02.001

Abstract

Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-marrow-failure syndromes in which the principal pathology is defective telomere maintenance. The genetic basis of many cases of DC and HHS remains unknown. Using ...read more

Mentioned in this Paper

Fanconi Anemia
Leukoplakia, Oral
Bloom Syndrome
Immunologic Deficiency Syndromes
Exons
Genome
DNA Repair
Lymphocytes as Percentage of Blood Leukocytes (Lab Test)
Telomere Shortening
Werner Syndrome
3
72
1

Similar Papers Found In These Feeds

Related Papers

Paper Details
References
  • References22
  • Citations72
12345...
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