Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism

Author: Horváth R.   Freisinger P.   Rubio R.   Merl T.   Bax R.   Mayr J.     Müller-Höcker J.   Pongratz D.   Moller L.   Horn N.   Jaksch M.  

Publisher: Springer Publishing Company

ISSN: 0141-8955

Source: Journal of Inherited Metabolic Disease, Vol.28, Iss.4, 2005-06, pp. : 479-492

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Abstract