Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia

Erin O’Neil, Leona Serrano, Drew Scoles, Kayla E. Cunningham, Grace Han, Pei-Wen Chiang, Jean Bennett, Tomas S. Aleman

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3 Scopus citations

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Medicine & Life Sciences