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  • CHARGE syndrome
  • CHD7
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    12010Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.



    +-nlAm J Med Genet A 152A(3):674-86 (2010)
    22010Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.



    +-nlPediatrics 126(6):e1594-8 (2010)



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