- ... Search term GeneReviews Advanced Search Help < Prev Next > Dyskeratosis Congenita and Related Telomere Biology Disorders Synonym: Zinsser-Cole- ... Estimated reading time: 42 minutes Summary Clinical characteristics. Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are ...
- ... the BRCA pathogenic variants that decrease protein levels). Dyskeratosis congenita (Zinsser-Cole-Engman syndrome) Dyskeratosis congenita, like Werner syndrome , results in premature aging and ...
- ... pulmonary hypertension, obstructive sleep apnea, emphysema, GERD, & obesity) Dyskeratosis congenita 1 See Dyskeratosis Congenita and Related Telomere Biology ...
- ... DNA repair genes. Telomere biology disorders (e.g., dyskeratosis congenita): Resulting from variants in genes that regulate telomere length. Genes altered in dyskeratosis congenita include ACD , CTC1 , DKC1 , NHP2 , NOP10 , PARN , RTEL1 , ...
- ... published></health-condition-summary><health-condition-summary ><name >Dyskeratosis congenita</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... been clinically misdiagnosed as having Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome (a rare subtype of epidermolysis ... RPA1 RTEL1 STN1 TERC TERT TINF2 WRAP53 ZCCHC8 Dyskeratosis congenita & related telomere biology disorders XL AD AR 1 ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/dyskeratosis-congenita</url><title >Dyskeratosis congenita</title><other_names ><other_ ...
- ... Review Beta-Thalassemia. Langer AL. GeneReviews(®). 1993 Review Dyskeratosis Congenita and Related Telomere Biology Disorders. [GeneReviews(®). 1993] Review ...
- ... carcinoma include the following:[ 1 - 8 ] Fanconi anemia. Dyskeratosis congenita. Connexin variants. Chronic graft-versus-host disease. Epidermolysis ... Giri N, Savage SA, et al.: Cancer in dyskeratosis congenita. Blood 113 (26): 6549-57, 2009. [ PMC free ...
- ... NHP2 NOP10 PARN RTEL1 TERC TERT TINF2 WRAP53 Dyskeratosis congenita XL AD AR Progressive bone marrow failure Myelodysplasia ... or slowly progressive. 2. Although most persons with dyskeratosis congenita have normal psychomotor development and normal neurologic function, ...
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