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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Détails bibliographiques
Publié dans:BMJ Case Rep
Auteurs principaux: Loo, Benny Kai Guo, Batilando, Melissa Jeanne, Tan, Ene Choo, Koh, Mark Jean Aan
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2018
Sujets:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Accès en ligne: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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