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Results 1 - 10 of 31 for Wagner syndrome
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  1. Wagner syndrome 
    Wagner syndrome is a hereditary disorder that causes progressive vision loss. The eye problems that lead to vision loss typically begin in childhood, although ...
    https://medlineplus.gov/genetics/condition/wagner-syndrome - Genetics
  2. 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
  3. Greig cephalopolysyndactyly syndrome 
    ... 1769. Citation on PubMed Kroisel PM, Petek E, Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet. ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
  4. Pfeiffer syndrome 
    ... 10.1007/s004390050979. Citation on PubMed Greig AV, Wagner J, Warren SM, Grayson B, McCarthy JG. Pfeiffer syndrome: analysis of a clinical series and development of ...
    https://medlineplus.gov/genetics/condition/pfeiffer-syndrome - Genetics
  5. 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
  6. Trisomy 18 
    ... Pertl B, Tschernigg M, Bauer M, Mayr J, Wagner K, Kroisel PM. Characterisation of a 19-year-old "long-term survivor" with Edwards syndrome. Genet Couns. 2003;14(2):239-44. Citation ...
    https://medlineplus.gov/genetics/condition/trisomy-18 - Genetics
  7. 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
  8. 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
  9. Distal hereditary motor neuropathy, type V 
    ... 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/...distal-hereditary-motor-neuropathy-type-v - Genetics
  10. Silver syndrome 
    ... 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/condition/silver-syndrome - Genetics
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