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Quoted phrase not found in phrase index: "Dyskeratosis congenita, autosomal recessive 3"
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Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer …
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematologica …
Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR, Giri N, McReynolds LJ, Alsaggaf R, Bhala S, Alter BP, Savage SA. Niewisch MR, et al. Blood. 2022 Mar 24;139(12):1807-1819. doi: 10.1182/blood.2021013523. Blood. 2022. PMID: 34852175 Free PMC article.
Dyskeratosis congenita related telomere biology disorders (DC/TBDs) are characterized by very short telomeres caused by germline pathogenic variants in telomere biology genes. Clinical presentations can affect all organs, and inheritance patterns include autosoma …
Dyskeratosis congenita related telomere biology disorders (DC/TBDs) are characterized by very short telomeres caused by germli …
Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB, Link DC, Mason PJ, Bessler M. Wilson DB, et al. Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Ann Med. 2014. PMID: 24888387 Free PMC article. Review.
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent ra …
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blo …
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Walne AJ, et al. Am J Hum Genet. 2013 Mar 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28. Am J Hum Genet. 2013. PMID: 23453664 Free PMC article.
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. ...All 11 mutations in ten HHS individuals from …
Dyskeratosis congenita (DC) and its phenotypically severe variant, Hoyeraal-Hreidarsson syndrome (HHS), are multisystem bone-m …