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40 results
  1. ... 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. ... the eye (retina) in addition to the other symptoms of dyskeratosis congenita.</html:p></html></text></text-list><inheritance-pattern- ...
  3. ... 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. ... 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. ... in which pathogenic variants are known to cause dyskeratosis congenita. 5. ... Following Initial Diagnosis To establish the extent of disease and needs ...
  6. ... 270-81 — Twining, H. E. A case for diagnosis, keratosis palmaris et plantaris, acquired ... diffusa congenita. See Keratoma, malignum. essential. See also Keratoderma, essential. ...
  7. ... 831.108 Carney Complex C16.131.831.150 Dyskeratosis Congenita C16.131.831.350 Ectodermal Dysplasia C16.131. ... 322.100 Dent Disease C16.320.322.108 Dyskeratosis Congenita C16.320.322.116 Ectodermal Dysplasia 1, Anhidrotic ...
  8. ... Kartagener Syndrome Levocardia Skin Abnormalities Acrodermatitis Carney Complex Dyskeratosis Congenita Ectodermal Dysplasia Ectodermal Dysplasia 1, Anhidrotic Ectodermal Dysplasia ...
  9. ... 831.108...........................................Carney Complex C16.131.831.150...........................................Dyskeratosis Congenita C16.131.831.350...........................................Ectodermal Dysplasia C16.131. ...
  10. ... Syndrome Nelson A, Myers K. GeneReviews®. 1993 Review Dyskeratosis Congenita [GeneReviews ® . 1993] Review Dyskeratosis Congenita Savage SA. GeneReviews®. ...
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