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Laboratory Findings Anemia may range from moderate to extremely severe (hemoglobin values of 2.5 g/dL have been recorded)

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In terms of molecular mechanisms, ZDHHC3 loss of function resulted in reduced palmitoylation modification of inactive rhodopsin 2 (IRHOM2), which in turn promoted its degradation via the ubiquitin-proteasome pathway and ultimately inhibited the activation of the downstream MAP3K7-JNK signaling pathway (158)