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92 results
  1. If you or someone you love has been diagnosed with cancer, learn about diagnosis, treatment, risk factors, coping and much more. ... What is cancer? Cancer ...
  2. ... ClinVar Beridze N, Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012 ...
  3. ... a member of the anaphase-promoting complex/cyclosome. Bloom syndrome Loss of genomic stability is a major cause of Bloom syndrome. This disorder shows increased chromosomal breakage and is ...
  4. ... presence of overgrowth.[ 44 ][ Level of evidence C1 ] Bloom syndrome. This syndrome is characterized by short stature and ... BLM gene are the only known cause of Bloom syndrome.[ 45 ] Li-Fraumeni syndrome. This syndrome is a ...
  5. ... published></health-condition-summary><health-condition-summary ><name >Bloom syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  6. ... DMPK Myotonic dystrophy type 1 AD Cancer BLM Bloom syndrome AR May be considered if cancer is presenting symptom, but RTS & Bloom syndrome are childhood-onset disorders. Also, Werner syndrome cells ...
  7. ... may be assoc w/pancytopenia &/or AML BLM Bloom syndrome (BSyn) AR Cells derived from persons w/BSyn ... et al 2003 ] in a further link to Bloom syndrome . FANCM is found in both separable complexes: the ...
  8. ... in own window Syndrome Description Location Gene Function Bloom syndrome [ 17 ] Rare inherited disorder characterized by short stature ... Li-Fraumeni syndrome [LFS] ). Genetics of Skin Cancer ( Bloom syndrome , Rothmund-Thomson syndrome , and Werner syndrome ). For information ...
  9. ... in own window Syndrome Description Location Gene Function Bloom syndrome [ 17 ] Rare inherited disorder characterized by short stature ... Li-Fraumeni syndrome [LFS] ). Genetics of Skin Cancer ( Bloom syndrome , Rothmund-Thomson syndrome , and Werner syndrome ). References Chen ...
  10. ... C, Kamsteeg EJ, Willemsen M. GeneReviews(®). 1993 Review Bloom Syndrome. [GeneReviews(®). 1993] Review Bloom Syndrome. Langer K, Cunniff CM, Kucine N. GeneReviews(®). 1993 ...
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