No abstract available
MeSH terms
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Adolescent
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Biopsy
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Brain / diagnostic imaging
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DNA / genetics*
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DNA Mutational Analysis
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Diagnosis, Differential
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Electroretinography / methods*
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Humans
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Laurence-Moon Syndrome / diagnosis*
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Laurence-Moon Syndrome / genetics
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Magnetic Resonance Imaging
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Male
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Mutation*
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Phospholipases / genetics*
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Phospholipases / metabolism
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Retina / diagnostic imaging*
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Retinal Degeneration / diagnosis
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Retinal Degeneration / etiology*
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Tomography, Optical Coherence / methods
Substances
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DNA
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PNPLA6 protein, human
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Phospholipases