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Results 1 - 10 of 29 for Bloom syndrome
  1. Bloom syndrome 
    Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of ...
    https://medlineplus.gov/genetics/condition/bloom-syndrome - Genetics
  2. BLM gene 
    ... gene mutations have been identified in people with Bloom syndrome, an inherited disorder characterized by short stature, a ... BLM gene mutation causes almost all cases of Bloom syndrome among people of Central and Eastern European (Ashkenazi) ...
    https://medlineplus.gov/genetics/gene/blm - Genetics
  3. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... with peripheral neuropathy Polycystic kidney disease Beta thalassemia Bloom syndrome Canavan disease PMM2 -congenital disorder of glycosylation , also ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  4. MCM6 gene 
    ... A novel cell-cycle-regulated interaction of the Bloom syndrome helicase BLM with Mcm6 controls replication-linked processes. ...
    https://medlineplus.gov/genetics/gene/mcm6 - Genetics
  5. Baller-Gerold syndrome 
    ... SYNDROME; BGS PubMed Anyane-Yeboa K, Gunning L, Bloom AD. Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. Clin Genet. 1980 Feb; ...
    https://medlineplus.gov/genetics/condition/baller-gerold-syndrome - Genetics
  6. Klippel-Trenaunay syndrome 
    ... SYNDROME PubMed Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, Hunter D. Klippel-Trenaunay syndrome. Am J Med Genet. 1998 Oct 2;79( ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  7. Potocki-Shaffer syndrome 
    ... 10.5414/npp26001. Citation on PubMed Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L. Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  8. Ochoa syndrome 
    ... Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569- ...
    https://medlineplus.gov/genetics/condition/ochoa-syndrome - Genetics
  9. HPSE2 gene 
    ... Peng W, Xu J, Li J, Owens KM, Bloom D, Innis JW. Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. J Pediatr Urol. 2011 Oct;7(5):569- ...
    https://medlineplus.gov/genetics/gene/hpse2 - Genetics
  10. PLOD1 gene 
    ... for the type VI variant of Ehlers-Danlos syndrome. Am J Hum Genet. 1997 Jan;60(1):48-56. Citation on PubMed or Free article on PubMed Central Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori ...
    https://medlineplus.gov/genetics/gene/plod1 - Genetics
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