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Results 1 - 10 of 13 for parts Weber syndrome
  1. GNAQ gene 
    ... iris) and related tissues that underlie the white part of the eye (the ... with Sturge-Weber syndrome or isolated port-wine birthmark do not have ...
    https://medlineplus.gov/genetics/gene/gnaq - Genetics
  2. WNT3 gene 
    The WNT3 gene is part of a large family of WNT genes, which play critical roles in development before birth. WNT genes provide instructions for ... other serious birth defects associated with tetra-amelia syndrome type 1. More About This Health ... C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Muller U. Homozygous WNT3 mutation causes tetra- ...
    https://medlineplus.gov/genetics/gene/wnt3 - Genetics
  3. CDH1 gene 
    ... In many cases, this increased risk occurs as part of an inherited cancer disorder called hereditary diffuse ... a primary tumor and spread (metastasize) to other parts of the body. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/cdh1 - Genetics
  4. SLC25A19 gene 
    ... the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports ... on a compound called alpha-ketoglutaric acid as part of an important series of reactions known as ...
    https://medlineplus.gov/genetics/gene/slc25a19 - Genetics
  5. CACNA1F gene 
    ... The CACNA1F gene provides instructions for making one part (the alpha-1 subunit) of a calcium channel ... acuity, nystagmus, an irregular curvature of the front part of the eye (astigmatism), nearsightedness (myopia), abnormal color ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  6. EHMT1 gene 
    ... and function. Kleefstra syndrome, a disorder affecting many parts of the body, is caused by the loss ... Innes M, Davies C, Lopez AG, Casalone R, Weber A, Brueton LA, Navarro AD, Bralo ... syndrome supports a major contribution of EHMT1 haploinsufficiency to ...
    https://medlineplus.gov/genetics/gene/ehmt1 - Genetics
  7. KANK2 gene 
    ... is known about its specific roles in various parts of the body. At least one mutation in ... Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, ... dysfunction and nephrotic syndrome. J Clin Invest. 2015 Jun;125(6):2375- ...
    https://medlineplus.gov/genetics/gene/kank2 - Genetics
  8. TWIST1 gene 
    ... of particular genes. Specifically, the TWIST1 protein is part of a large protein family called basic helix- ... McGowan SJ, Lord H, Lester T, Sweeney E, Weber A, Cox H, Wilkie AOM, Golden A, ... syndrome caused by TWIST 1 gene mutations: functional differentiation ...
    https://medlineplus.gov/genetics/gene/twist1 - Genetics
  9. CLCNKB gene 
    ... of chloride ions by ClC-Kb channels is part of the mechanism by which the kidneys reabsorb ... Garcia-Garcia AB, Millan I, Amoros F. Gitelman syndrome due to p.A204T mutation ... Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW. Mutations in the ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
  10. MSX1 gene 
    ... activity of other genes. The MSX1 gene is part of a larger family of homeobox genes, which ... O'Brien SE, Daack-Hirsch S, Schultz RE, Weber A, Nepomucena B, Romitti PA, ... mutation in MSX1 causes Witkop syndrome. Am J Hum Genet. 2001 Jul;69(1): ...
    https://medlineplus.gov/genetics/gene/msx1 - Genetics
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