- 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 ...
- ... ClinVar Beridze N, Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012 ...
- ... 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 ...
- ... 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 ...
- ... published></health-condition-summary><health-condition-summary ><name >Bloom syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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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