Is it some kind of defective gene that causes harlequin ichthyosis?

Yes, mutations in the ABCA12 gene cause harlequin ichthyosis. This condition is inherited. Harlequin ichthyosis only occurs when both parents carry the same defective gene.

Two copies of the defective gene must be inherited to have the disorder. The chances of this are very small, one in a million. More.

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