Most people with harlequin ichthyosis carry a genetic mutation that causes cells to make ABCA12 proteins that are too short and thus unable to properly transport fats. In some cases, people can't make ...
It’s one of the rarest — and most devastating — genetic disorders doctors encounter. Harlequin ichthyosis affects just a handful of newborns each year in the US, but the condition is unmistakable, ...
Disease name: Harlequin ichthyosis, also called ichthyosis fetalis and harlequin baby syndrome Affected populations: This genetic condition affects an estimated 1 in 300,000 live births globally. In ...
When you buy through links on our articles, Future and its syndication partners may earn a commission. Babies born with harlequin ichthyosis have very distinctive features, including platelike scales ...
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