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Results 1 - 10 of 12 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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. Peutz-Jeghers syndrome 
    ... abstract available. Citation on PubMed van Lier MG, Wagner A, Mathus-Vliegen EM, Kuipers EJ, Steyerberg EW, van Leerdam ME. High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations. Am J ...
    https://medlineplus.gov/genetics/condition/peutz-jeghers-syndrome - Genetics
  8. Uncombable hair syndrome 
    ... 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/condition/uncombable-hair-syndrome - Genetics
  9. Myostatin-related muscle hypertrophy 
    ... bulk, but to a lesser degree. Muscle hypertrophy syndrome ... Rev Med Chem. 2006 Jul;6(7):765-70. doi: 10.2174/138955706777698642. Citation on PubMed Schuelke M, Wagner KR, Stolz LE, Hubner C, Riebel T, Komen ...
    https://medlineplus.gov/.../myostatin-related-muscle-hypertrophy - Genetics
  10. Idiopathic infantile hypercalcemia 
    ... Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M. Autosomal-Recessive Mutations in SLC34A1 ...
    https://medlineplus.gov/.../idiopathic-infantile-hypercalcemia - Genetics
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