Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 26 for Arts syndrome
  1. PRPS1 gene 
    ... gene mutations have been identified in people with Arts syndrome, a disorder that causes serious neurological problems in ... milder symptoms.The PRPS1 gene mutations that cause Arts syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/prps1 - Genetics
  2. CHD7 gene 
    ... Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  3. TNFRSF1A gene 
    ... Aug;54(8):2674-87. doi: 10.1002/art.21964. Citation on PubMed Stojanov S, McDermott MF. The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med. 2005 Oct ...
    https://medlineplus.gov/genetics/gene/tnfrsf1a - Genetics
  4. IFT140 gene 
    ... Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am ...
    https://medlineplus.gov/genetics/gene/ift140 - Genetics
  5. LPIN2 gene 
    ... mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum. 2007 Mar;56(3):960-4. doi: 10.1002/art.22431. Citation on PubMed Bhuyan F, de Jesus ...
    https://medlineplus.gov/genetics/gene/lpin2 - Genetics
  6. IFT43 gene 
    ... PubMed INTRAFLAGELLAR TRANSPORT 43; IFT43 ... V, Brunner HG, Knoers NV, Roepman R. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet. 2011 Jun;48(6):390- ...
    https://medlineplus.gov/genetics/gene/ift43 - Genetics
  7. SETBP1 gene 
    ... Central Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier ... of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010 Jun;42(6):483-5. ...
    https://medlineplus.gov/genetics/gene/setbp1 - Genetics
  8. ACTG1 gene 
    ... Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, ... ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440- ...
    https://medlineplus.gov/genetics/gene/actg1 - Genetics
  9. ACTB gene 
    ... Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, ... ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440- ...
    https://medlineplus.gov/genetics/gene/actb - Genetics
  10. TNXB gene 
    ... Hakim AJ, Grahame R, Schalkwijk J. Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum. 2004 Sep;50(9):2742-9. doi: 10.1002/art.20488. No abstract available. Citation on PubMed
    https://medlineplus.gov/genetics/gene/tnxb - Genetics
previous · 1 · 2 · 3 · next