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  1. Dyskeratosis Congenita and Related Telomere Biology Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK22301
    ... Hoyeraal Hreidarsson syndrome Revesz syndrome Coats plus syndrome Diagnosis Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are ...
  2. Poikiloderma with Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK459118
    ... I. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica. 2016;101:1180-9. [ PMC free article : ...
  3. 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- ...
  4. Childhood Acute Myeloid Leukemia/Other Myeloid Malignancies Treatment (PDQ®) - PDQ Cancer Information Summaries - NCBI .... 
    https://www.ncbi.nlm.nih.gov/books/NBK65864
    ... Noonan syndrome . - Shwachman-Diamond syndrome . - Diamond-Blackfan anemia . - Dyskeratosis congenita . - Li-Fraumeni syndrome . Signs and symptoms of childhood acute myeloid leukemia and other myeloid ...
  5. Pulmonary Fibrosis Predisposition Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1230
    ... apnea, emphysema, GERD, & obesity) Dyskeratosis congenita 1 See Dyskeratosis Congenita and Related Telomere Biology Disorders, Evaluations Following Initial Diagnosis . Genetic counseling By genetics professionals 2 To obtain ...
  6. Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65895
    ... NOP10 , RTEL1 and TERT ) have been implicated in dyskeratosis congenita; approximately one-half of the individuals with a clinical diagnosis of this disease have an identified pathogenic variant ...
  7. POT1 Tumor Predisposition - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK563529
    ... has been described in two sibs with the diagnosis of Coats plus syndrome (a telomere biology disorder; see Dyskeratosis Congenita and Related Telomere Biology Disorders ). A germline heterozygous ...
  8. Dictionary of Cancer Terms - PDQ Cancer Information Summaries - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK65951
    ... ... acupuncture early diagnosis early menopause early-stage breast cancer early-stage ...
  9. GATA1-Related Cytopenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1364
    ... individuals with a telomere biology disorder (e.g., dyskeratosis ... Diagnosis of GATA1 -Related Cytopenia View in own window ...
  10. Kindler Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349072
    ... Disorders with Features of Poikiloderma in the Differential Diagnosis of Kindler Syndrome View in own ... congenita XL AD AR Dysplastic nails, lacy reticular pigmentation ...
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