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Quoted phrase not found in phrase index: "Dyskeratosis congenita, autosomal recessive 1"
Page 1
Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A, Niewisch MR, Bhala S, Kudaravalli P, Rahman F, Hercun J, Kleiner DE, Savage SA, Koh C, Heller T, Giri N. Vittal A, et al. Hepatology. 2023 Dec 1;78(6):1777-1787. doi: 10.1097/HEP.0000000000000461. Epub 2023 May 16. Hepatology. 2023. PMID: 37184208 Free PMC article.
BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short telomeres and multisystem organ involvement including liver disease. ...Presence of pulmonary and/or vascular disease in patients with re …
BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short …
Telomere biology disorders may manifest as common variable immunodeficiency (CVID).
Rolles B, Caballero-Oteyza A, Proietti M, Goldacker S, Warnatz K, Camacho-Ordonez N, Prader S, Schmid JP, Vieri M, Isfort S, Meyer R, Kirschner M, Brümmendorf TH, Beier F, Grimbacher B. Rolles B, et al. Clin Immunol. 2023 Dec;257:109837. doi: 10.1016/j.clim.2023.109837. Epub 2023 Nov 8. Clin Immunol. 2023. PMID: 37944684
Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized by critically short telomeres. In contrast to classical dyskeratosis congenita (DC), which is typically diagnosed in infancy, a …
Telomere biology disorders (TBD) are caused by germline pathogenic variants in genes related to telomere maintenance and are characterized b …