Hurler syndrome

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a-iduronidase knochout mouse
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A boy with a mutation in a-L-iduronidase, which causes Hurler syndrome.  Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a-L-iduronidase.   Progressive coarsening of face is apparent as 8-week-old mice (left) grow to become 52-week-old mice (right).

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