- ... Hoyeraal Hreidarsson syndrome Revesz syndrome Coats plus syndrome Diagnosis Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are ...
- ... I. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica. 2016;101:1180-9. [ PMC free article : ...
- ... the eye (retina) in addition to the other symptoms of dyskeratosis congenita.</html:p></html></text></text-list><inheritance-pattern- ...
- ... Noonan syndrome . - Shwachman-Diamond syndrome . - Diamond-Blackfan anemia . - Dyskeratosis congenita . - Li-Fraumeni syndrome . Signs and symptoms of childhood acute myeloid leukemia and other myeloid ...
- ... 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 ...
- ... 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 ...
- ... ... acupuncture early diagnosis early menopause early-stage breast cancer early-stage ...
- ... individuals with a telomere biology disorder (e.g., dyskeratosis ... Diagnosis of GATA1 -Related Cytopenia View in own window ...
- ... Disorders with Features of Poikiloderma in the Differential Diagnosis of Kindler Syndrome View in own ... congenita XL AD AR Dysplastic nails, lacy reticular pigmentation ...
- ... having certain genetic conditions, such as: Fanconi ... your child may be at risk. Symptoms of childhood oral cavity cancer The symptoms of ...
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