No abstract available
MeSH terms
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Child
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Codon, Nonsense / genetics*
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DNA Mutational Analysis
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Female
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Humans
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Hypopigmentation / genetics*
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Hypopigmentation / physiopathology
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Intellectual Disability / genetics*
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Intellectual Disability / physiopathology
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Melanosomes / pathology*
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Motor Skills Disorders / genetics*
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Motor Skills Disorders / physiopathology
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Muscle Hypotonia / genetics*
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Muscle Hypotonia / physiopathology
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Myosins / genetics
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Syndrome