skeleton
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• 1 of 109 heterozygous newborns show a curled tail due to distortion of caudal vertebrae
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• the sternum is often distorted and xiphoid process bifurcated in newborn heterozygotes that have abnormal ribs
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• the ventral segment of adjacent ribs, both true and false ribs, in newborn heterozygotes is sometimes fused which forms a fork-like structure
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• the majority of newborn heterozygotes have only 6 true ribs on the right and left, instead of the normal 7
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• all newborn heterozygotes are found to have 5, instead of the normal 6, lumbar vertebrae
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limbs/digits/tail
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• 1 of 109 heterozygous newborns show a curled tail due to distortion of caudal vertebrae
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Analysis Tools