Literature DB >> 23495722

Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.

G Cappuccio1, V M Ginocchio, A Maffè, S Ungari, G Andria, D Melis.   

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Year:  2013        PMID： 23495722     DOI： 10.1111/cge.12115

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  1 in total

1.  Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

Authors:  Caitlin L Hale; Adrienne N Niederriter; Glenn E Green; Donna M Martin
Journal:  Am J Med Genet A       Date:  2015-11-21       Impact factor: 2.802
  1 in total

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