No abstract available
Keywords:
LAMA1 mutation; Poretti-Boltshauser syndrome; Retinal dystrophy; Short pons; Square-shaped fourth ventricle.
MeSH terms
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Central Nervous System Cysts* / diagnostic imaging
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Central Nervous System Cysts* / genetics
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Central Nervous System Cysts* / pathology
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Cerebellar Diseases* / diagnostic imaging
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Cerebellar Diseases* / genetics
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Cerebellar Diseases* / pathology
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Child, Preschool
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Fourth Ventricle* / diagnostic imaging
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Fourth Ventricle* / pathology
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Humans
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Laminin / genetics
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Male
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Retinal Dystrophies* / diagnostic imaging
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Retinal Dystrophies* / genetics
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Retinal Dystrophies* / pathology
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Syndrome