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  1. Dyskeratosis congenita: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita
    ... the eye ( retina ) in addition to the other symptoms of dyskeratosis congenita. Frequency The exact prevalence of dyskeratosis congenita is ... but they typically do not show signs and symptoms of the condition. Other Names for This ... and Rare Diseases Information Center Dyskeratosis congenita ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... the eye (retina) in addition to the other symptoms of dyskeratosis congenita.</html:p></html></text></text-list><inheritance-pattern- ...
  3. CTC1 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ctc1
    ... these changes could underlie the varied signs and symptoms of Coats plus syndrome. More About This Health Condition Dyskeratosis congenita MedlinePlus Genetics provides information about Dyskeratosis congenita More ...
  4. Familial Monosomy 7 Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK45015
    ... al 2000 ] Paroxysmal nocturnal hemoglobinuria (PNH) (OMIM 300818 ) Dyskeratosis congenita Fanconi anemia Shwachman-Diamond syndrome Management Evaluations Following Initial Diagnosis Urgent referral to an oncologist for evaluation of ...
  5. SAMD9L-Related Ataxia-Pancytopenia Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK435692
    ... in which pathogenic variants are known to cause dyskeratosis congenita. 5. ... Following Initial Diagnosis To establish the extent of disease and needs ...
  6. Fanconi Anemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1401
    ... Syndrome Nelson A, Myers K. GeneReviews®. 1993 Review Dyskeratosis Congenita [GeneReviews ® . 1993] Review Dyskeratosis Congenita Savage SA. GeneReviews®. ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/dyskeratosis-congenita</url><title >Dyskeratosis congenita</title><other_names ><other_ ...
  8. Childhood Oral Cavity Cancer Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475838
    ... carcinoma include the following:[ 1 - 8 ] Fanconi anemia. Dyskeratosis congenita. Connexin mutations. Chronic graft-versus-host disease. Epidermolysis ... Giri N, Savage SA, et al.: Cancer in dyskeratosis congenita. Blood 113 (26): 6549-57, 2009. [ PMC free ...
  9. IMAGe Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190103
    ... in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. Pediatr Blood Cancer. 2010; 54 : ...
  10. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Ashkenazi ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535149
    ... 1999] , Scott et al [2010] c.104dupA -- 3% Dyskeratosis congenita AR RTEL1 c.3791G>A p.Arg1264His 95% ...
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