Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis

Harlequin ichthyosis (HI) is the most severe form of autosomal recessive congenital ichthyosis, presenting at birth with distinctive facial features and thick, plate-like scales over the entire body. The abnormal skin barrier predisposes the patient to multiple complications, including dehydration a...

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Bibliografiset tiedot
Julkaisussa:BMJ Case Rep
Päätekijät: Loo, Benny Kai Guo, Batilando, Melissa Jeanne, Tan, Ene Choo, Koh, Mark Jean Aan
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2018
Aiheet:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5775800/
https://ncbi.nlm.nih.gov/pubmed/29298786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-222025
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