Early onset of Chanarin-Dorfman syndrome with severe liver involvement in a patient with a complex rearrangement of ABHD5 promoter.

Autor: Missaglia, Sara1, Ribeiro Valadares, Eugenia2, Moro, Laura3, Tavares Faguntes, Eleonora Druve4, Roque, Raquel quintão5, Giardina, Bruno1,6, Tavian, Daniela1,7 daniela.tavian@unicatt.it
Zdroj: BMC Medical Genetics. 2014, Vol. 15 Issue 1, p1-6. 6p.
Databáze: Academic Search Ultimate