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Results 1 - 10 of 16 for Bloom syndrome
  1. 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
  2. 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
  3. 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
  4. 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
  5. TNXB gene 
    ... Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Am J Med Genet A. 2005 May 15;135(1):75-80. doi: 10.1002/ajmg.a.30671. Citation on PubMed 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/tnxb - Genetics
  6. COL5A1 gene 
    ... COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997 Mar;60(3):547-54. 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/col5a1 - Genetics
  7. COL5A2 gene 
    ... Lavallee ME, Malfait F, Francomano CA. Ehlers-Danlos syndrome, classical type. Am J ... J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori ...
    https://medlineplus.gov/genetics/gene/col5a2 - Genetics
  8. COL3A1 gene 
    ... mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary ... J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori ...
    https://medlineplus.gov/genetics/gene/col3a1 - Genetics
  9. FKBP14 gene 
    ... Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori ...
    https://medlineplus.gov/genetics/gene/fkbp14 - Genetics
  10. COL1A2 gene 
    ... Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori ... The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
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