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Results 1 - 10 of 10 for Alexander disease
  1. Alexander disease 
    Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. ...
    https://medlineplus.gov/genetics/condition/alexander-disease - Genetics
  2. GFAP gene 
    ... identified more than 50 GFAP mutations that cause Alexander disease. Most of these mutations change one of the ... of myelin, causing the signs and symptoms of Alexander disease. More About This Health Condition FLJ45472 GFAP_HUMAN ...
    https://medlineplus.gov/genetics/gene/gfap - Genetics
  3. CLN4 disease 
    ... Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol ...
    https://medlineplus.gov/genetics/condition/cln4-disease - Genetics
  4. COL1A2 gene 
    ... PubMed Giunta C, Steinmann B. Gene symbol: COL1A2. Disease: Ehlers-Danlos syndrome type VIIB. Hum Genet. 2008 Jun;123(5):540. No abstract available. Citation on PubMed Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of ...
    https://medlineplus.gov/genetics/gene/col1a2 - Genetics
  5. Osteogenesis imperfecta 
    ... 19. Citation on PubMed Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of ...
    https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta - Genetics
  6. COL1A1 gene 
    ... 1202051. Citation on PubMed Lim J, Grafe I, Alexander S, Lee B. Genetic causes and mechanisms of ... Shotelersuk V. Expanding the phenotypic spectrum of Caffey disease. Clin Genet. 2007 Mar;71(3):280-4. ...
    https://medlineplus.gov/genetics/gene/col1a1 - Genetics
  7. X-linked myotubular myopathy 
    ... 2006 Sep 26. Citation on PubMed Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta ...
    https://medlineplus.gov/.../condition/x-linked-myotubular-myopathy - Genetics
  8. X chromosome 
    ... Parikshak NN, Chandran V, Blumenthal JD, Clasen LS, Alexander-Bloch AF, Zinn AR, Wangsa D, Wise J, ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  9. Autosomal recessive congenital stationary night blindness 
    ... McGee TL, Berson EL, Fishman GA, Sandberg MA, Alexander KR, Derlacki DJ, Rajagopalan AS. Night blindness and ...
    https://medlineplus.gov/...ive-congenital-stationary-night-blindness - Genetics
  10. POGZ gene 
    ... PubMed Central Ye Y, Cho MT, Retterer K, Alexander N, Ben-Omran T, Al-Mureikhi M, Cristian ...
    https://medlineplus.gov/genetics/gene/pogz - Genetics