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Results 1 - 10 of 15 for Wagner syndrome
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  1. VCAN gene 
    ... the VCAN gene have been found to cause Wagner syndrome, a condition that leads to progressive vision loss ... early adulthood. The VCAN gene mutations that cause Wagner syndrome disrupt the way the gene's instructions are ...
    https://medlineplus.gov/genetics/gene/vcan - Genetics
  2. PMS2 gene 
    ... Lange V, Suerink M, Thibodeau S, Vos YJ, Wagner A, Winship I, Hes FJ, Vasen HFA, Wijnen JT, Nielsen M, Win AK. Cancer Risks for PMS2-Associated Lynch Syndrome. J Clin Oncol. 2018 Oct 10;36(29): ...
    https://medlineplus.gov/genetics/gene/pms2 - Genetics
  3. GTF2IRD1 gene 
    ... XN, Pulst-Korenberg AM, Jarvinen-Pasley A, Tirosh-Wagner T, Eis PS, Graham J, Mills D, Searcy Y, Korenberg JR. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I ...
    https://medlineplus.gov/genetics/gene/gtf2ird1 - Genetics
  4. BSCL2 gene 
    ... L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. ...
    https://medlineplus.gov/genetics/gene/bscl2 - Genetics
  5. TP53 gene 
    ... Hogervorst FB, Kluijt I, Sijmons RH, Aalfs CM, Wagner A, Ausems MG, Hoogerbrugge ... syndrome: mutation detection rate and relative frequency of cancers ...
    https://medlineplus.gov/genetics/gene/tp53 - Genetics
  6. TCHH gene 
    ... Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 1;99( ...
    https://medlineplus.gov/genetics/gene/tchh - Genetics
  7. TGM3 gene 
    ... Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 1;99( ...
    https://medlineplus.gov/genetics/gene/tgm3 - Genetics
  8. PADI3 gene 
    ... Swan D, Houniet D, Buchner A, Weibel L, Wagner N, Grimalt R, Bygum A, Serre G, Blume-Peytavi U, Sprecher E, Schoch S, Oji V, Hamm H, Farrant P, Simon M, Betz RC. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. Am J Hum Genet. 2016 Dec 1;99( ...
    https://medlineplus.gov/genetics/gene/padi3 - Genetics
  9. SLC3A1 gene 
    ... J, Matthijs G, Creemers JW. Multi-system disorder syndromes associated with cystinuria type I. Curr Mol Med. 2008 Sep;8(6):544-50. doi: 10.2174/156652408785747997. Citation on PubMed Schmidt C, Vester U, Wagner CA, Lahme S, Hesse A, Hoyer P, Lang ...
    https://medlineplus.gov/genetics/gene/slc3a1 - Genetics
  10. POLR3A gene 
    ... Farrow E, Adams J, Toriello HV. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9. Citation on PubMed Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay ...
    https://medlineplus.gov/genetics/gene/polr3a - Genetics
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