No abstract available
MeSH terms
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Abnormalities, Multiple* / genetics
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Abnormalities, Multiple* / physiopathology
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Bone and Bones / abnormalities*
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Brain / abnormalities*
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Chromosomes, Human, Pair 1
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Chromosomes, Human, Pair 16
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Diagnosis, Differential
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Eye Abnormalities* / genetics
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Eye Abnormalities* / physiopathology
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Face / abnormalities*
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Genes, Recessive
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Humans
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Prognosis
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Syndrome
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Translocation, Genetic