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Why are people born with harlequin baby disorder?

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Why are people born with harlequin baby disorder?

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Seems like it is a genetic disorder. I think both parents have to have the gene in order for a baby to have it. Mutations in the ABCA12 gene cause harlequin ichthyosis.[4][5] The ABCA12 gene makes a protein that is essential for the normal development of skin cells. Although the protein’s exact function is unknown, researchers believe that it probably plays a major role in the transport of lipids (fats) in the outermost layer of skin (the epidermis). Mutations in the ABCA12 gene lead to the production of an abnormally small version of the protein that cannot transport lipids properly. The loss of functional ABCA12 protein disrupts the normal development of the epidermis, preventing the skin from forming an effective barrier and resulting in the hard, thick scales characteristic of harlequin ichthyosis. This condition is inherited in an autosomal recessive pattern, which means two copies of the faulty gene must be inherited to have the disorder. Both parents of an individual with an aut

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