Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene

Redaelli, Chiara; Coleman, Rosalind A.; Moro, Laura; Dacou-Voutetakis, Catherine; Elsayed, Solaf M.; Pastori, Daniele; Colli, Agostino; Mela, Donatella; Colombo, R.; Tavian, Daniela

doi:10.17615/dgc4-hz06

2010

DOI: 10.17615/dgc4-hz06

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Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene

Chiara Redaelli¹,

Rosalind A. Coleman²,

Laura Moro³

et al.

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Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 gene

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