Search Results - "Batilando, Melissa"

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    Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis by Loo, Benny Kai Guo, Batilando, Melissa Jeanne, Tan, Ene Choo, Koh, Mark Jean Aan

    Published in BMJ case reports (03-01-2018)
    “…Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick,…”
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    Journal Article
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