Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

Author:

Poulter James A.,Al-Araimi Musallam,Conte Ivan,van Genderen Maria M.,Sheridan Eamonn,Carr Ian M.,Parry David A.,Shires Mike,Carrella Sabrina,Bradbury John,Khan Kamron,Lakeman Phillis,Sergouniotis Panagiotis I.,Webster Andrew R.,Moore Anthony T.,Pal Bishwanath,Mohamed Moin D.,Venkataramana Anandula,Ramprasad Vedam,Shetty Rohit,Saktivel Murugan,Kumaramanickavel Govindasamy,Tan Alex,Mackey David A.,Hewitt Alex W.,Banfi Sandro,Ali Manir,Inglehearn Chris F.,Toomes Carmel

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference31 articles.

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3. Signaling pathways in melanosome biogenesis and pathology;Schiaffino;Int. J. Biochem. Cell Biol.,2010

4. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1;Al-Araimi;Mol. Vis.,2013

5. A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2;Pal;J. Med. Genet.,2004

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