A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb
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• Wassel Type 7 – duplication or isolated.• Maybe autosomal dominant. M = F, most bilateral. Related to thalidomide.• Associated with:○ Holt-Oram syndrome;○ Fanconi’s anaemia is always associated with triphalangeal ...
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