No abstract available
Keywords:
Children; Cone-shaped epiphyses; Mainzer–Saldino; Nephronophthisis; Retinitis pigmentosa.
MeSH terms
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Carrier Proteins / genetics
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Cerebellar Ataxia / complications
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Cerebellar Ataxia / diagnosis*
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Child, Preschool
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Female
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Hand / diagnostic imaging*
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Humans
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Mutation
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Renal Insufficiency, Chronic / diagnosis*
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Renal Insufficiency, Chronic / etiology
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Retinitis Pigmentosa / complications
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Retinitis Pigmentosa / diagnosis*
Substances
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Carrier Proteins
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IFT140 protein, human