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Results 1 - 2 of 2 for Alfadhel syndrome
  1. CEP290 gene 
    ... EE, Stoetzel C, Diaz-Font A, Rix S, Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  2. SLC19A3 gene 
    ... THIAMINE TRANSPORTER), MEMBER 3; SLC19A3 NCBI Gene ClinVar Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al ... a new cause of early-childhood fatal Leigh syndrome. Brain. 2013 Mar;136(Pt 3):882-90. ...
    https://medlineplus.gov/genetics/gene/slc19a3 - Genetics