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Results 1 - 3 of 3 for "Townes-Brocks" syndrome 2
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  1. Townes-Brocks Syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/townes-brocks-syndrome - Genetics
  2. SALL1 gene 
    ... 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. ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  3. Congenital anomalies of kidney and urinary tract 
    ... 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 ...
    https://medlineplus.gov/...tal-anomalies-of-kidney-and-urinary-tract - Genetics