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15 Cards in this Set
- Front
- Back
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mewing cry in children
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Cri-du-chat syndrome
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Cri-du-chat syndrome caused by
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missing part of chromosome 5
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Fragile X gene
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FMR1, X chromosome
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hereditary haemochromatosis gene
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HFE, chromosome 6
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autosomal recessive, iron overload
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hereditary haemochromatosis
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autosomal recessive, excess of Phe
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phenylketonurea (PKU)
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phenylketonurea (PKU) gene
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PAH, chromosome 12
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sickle cell anaemia gene
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beta-globin, chromosome 11
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autosomal dominant, loss of elasticity
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Marfan syndrome
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Marfan syndrom protein
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fibrillin, chromosome 15
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X-linked dominant
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enamel hypoplasia
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enamel hypoplasia protein
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amelogenin, X chromosome
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colour blindness protein
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green/red opsin, X chromosome
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haemophilia protein
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factor VIII, X chromosome
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sex-limited (influenced) trait
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pattern baldness
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