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10 Uncommon Genetic Mutations in Humans

Published on December 26, 2017 at 7:35 am by Tina Hadzic in Lists

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4. Harlequin ichthyosis

Harlequin ichthyosis is an extremely rare genetic mutation that affects the skin. Infants who are born with the condition are covered with a hard and very thick layer of skin, that has deep cracks. Due to this, children experience dehydration and succumb to infections in the first weeks of their lives. The condition results from the mutation of the gene ABCA12 which is essential for making a protein in charge of normal development of skin cells.

10 Uncommon Genetic Mutations in Humans

Pixabay/Public Domain

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Slideshow List XFinance rare physical traits common human mutations cool genetic disorders beautiful human mutations harmful mutations examples genetic mutations in animals examples of genetic mutations examples of harmful mutations beneficial mutations in humans Diprosopus rare genetic mutation rarest genetic mutations in humans Turner syndrome rare genetic mutation beautiful genetic mutations in humans Proteus syndrome rare genetic mutation 10 Uncommon Genetic Mutations in Humans Cyclopia syndrome rare genetic mutation most uncommon genetic mutations in humans Harlequin ichthyosis rare genetic mutation Treacher Collins syndrome rare genetic mutation Hypertrichosis-werewolf syndrome rare genetic mutation 10 fascinating examples of genetically modified animals Hutchinson-Gilford progeria syndrome rare genetic mutation Fibrodysplasia ossificans progressiva rare genetic mutation Marfanoid–progeroid–lipodystrophy syndrome rare genetic mutation Show more...Show less