Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease von Elpidorou, Marilena, Poulter, James A, Szymanska, Katarzyna, Baron, Wia, Junger, Katrin, Boldt, Karsten, Ueffing, Marius, Green, Lydia, Livingston, John H, Sheridan, Eammon G, Johnson, Colin A

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Exudative retinopathy in a girl with alström syndrome due to a novel mutation von Gogi, Devina, Bond, Jackie, Long, Vernon, Sheridan, Eammon, Woods, C G

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Exudative retinopathy in a girl with Alström syndrome due to a novel mutation von Gogi, Devina, Bond, Jackie, Long, Vernon, Sheridan, Eammon, Woods, C G

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