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Results 1 - 5 of 5 for "Townes-Brocks" syndrome 2
  1. ... Rare Disorders (NORD) TOWNES-BROCKS SYNDROME 1; TBS1 TOWNES-BROCKS SYNDROME 2; TBS2 PubMed Botzenhart EM, Bartalini G, Blair E, ... NBK1445/ Citation on PubMed Powell CM, Michaelis RC. Townes-Brocks syndrome. J Med Genet. 1999 Feb;36(2):89-93. Citation on PubMed or Free article ...
  2. ... a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome. Hum Mutat. 2006 Feb;27(2):211-2. doi: 10.1002/humu.9396. Citation ... R. Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome. Am J Hum Genet. 2018 Feb 1;102(2):249-265. doi: 10.1016/j.ajhg.2017. ...
  3. ... renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome can cause kidney ... is involved in 17q12 deletion syndrome and RCAD syndrome. These two genes play critical roles in the formation of ...
  4. Kidney Diseases (National Library of Medicine)  
    You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about ...
  5. Hearing Disorders and Deafness (National Library of Medicine)  
    It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They ...