Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
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P. Huppke | S. Kaler | J. Christodoulou | G. Nürnberg | P. Nürnberg | V. Kalscheuer | R. Ullmann | L. Møller | J. Gärtner | O. Elpeleg | Callum Wilson | C. Brendel | P. Freisinger | G. Korenke | S. Dad | G. Pitelet | I. Marquardt | U. Gruber‐Sedlmayr | Merle Hillebrand | S. Haas