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  • Title: Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3.
    Author: Liao C, Fu F, Li R, Yang X, Xu Q, Li DZ.
    Journal: Eur J Med Genet; 2012; 55(8-9):472-5. PubMed ID: 22617776.
    Abstract:
    We present three foetuses with Dandy-Walker malformation, intra-uterine growth restriction and multiple congenital abnormalities, who were studied by array-based comparative genomic hybridization and revealed a novel locus on chromosome 7p21.3. The association of pure chromosome 7p aberrations with Dandy-Walker malformation has rarely been reported. The present study suggests that the critical region associated with Dandy-Walker malformation is restricted to 7p21.3, including the cerebellar disease associated genes NDUFA4 and PHF14.
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