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Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-/SMAD pathway
Dehydration due to diarrhea and reduced appetite
These marks can sometimes last for months or even years
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Functional studies in zebrafish have provided in vivo evidence that disruption of Pgrmc1 (progesterone receptor membrane component 1)a membrane-associated protein that physically interacts with CYP51A1leads to cataract formation, likely due to impaired CYP51A1 activity and dysregulated cholesterol metabolism [48]
Otherwise, they contain little fibre, which leads to intense blood sugar spikes
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