Case Report: Novel rare mutation c.6353C > G in the ABCA12 gene causing harlequin ichthyosis identified by whole exome sequencing
BackgroundHarlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability to control dehydration and regulate temperature and...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-02-01T00:00:00Z.
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