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CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney.

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Title: CHARGE syndrome associated with de novo (I1460Rfs*15) frameshift mutation of CHD7 gene in a patient with arteria lusoria and horseshoe kidney.
Authors: Gug, Cristina1 (AUTHOR), Gorduza, Eusebiu Vlad2,3 (AUTHOR), Lăcătuşu, Adrian4 (AUTHOR) adilacatusu@yahoo.com, Vaida, Monica Adriana5 (AUTHOR), Bîrsăşteanu, Florin6 (AUTHOR), Puiu, Maria1 (AUTHOR), Stoicănescu, Dorina1 (AUTHOR)
Source: Experimental & Therapeutic Medicine. Jul2020, Vol. 20 Issue 1, p479-485. 7p.
Database: Academic Search Ultimate
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Description
ISSN:17920981
DOI:10.3892/etm.2020.8683