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https://www.thinkgenetic.com/diseases/bloom-syndrome/organizations/17571
How do I give money to help research in Bloom syndrome? Is there more than one genetic test for Bloom syndrome? What are other features of Bloom syndrome? What health problems should I look for in Bloom syndrome? Is there a treatment(s) for Bloom syndrome?
https://www.bloomssyndromeassociation.org/default.aspx?page=advocacygroups
Third annual fundraiser in memory of Vanessa Bianco and for the benefit of all individuals and families affected by Bloom’s syndrome. All proceeds from the 2017 campaign will go to Bloom’s Syndrome Association in support of its mission.
https://ghr.nlm.nih.gov/condition/bloom-syndrome
Oct 15, 2019 · Mutations in the BLM gene cause Bloom syndrome. The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule.
https://rarediseases.org/rare-diseases/bloom-syndrome/
Bloom syndrome is a rare genetic disorder characterized by short stature; increased skin sensitivity to ultraviolet rays from the sun (photosensitivity); multiple small dilated blood vessels (telangiectasia) over the nose and cheeks resembling a butterfly in shape; mild immune deficiency with increased susceptibility to infections; and most importantly, a markedly increased susceptibility to many types of cancer, especially leukemia, lymphoma and gastrointestinal tract tumors.
http://www.mazornet.com/genetics/bloom_syndrome.htm
Support Groups; Description Bloom's Syndrome is an autosomal recessive genetic disorder which is the result of the mutation of the BLM gene located on chromosome 15. BLM mutations prevent protein from carrying out its normal function of maintaining gene stability. Individuals with Bloom's Syndrome have an unusually high number of breaks along their chromosomes.
https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome
57 rows · Sep 01, 2011 · Bloom syndrome is diagnosed by either cytogenetic analysis or mutation …
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