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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Detalles Bibliográficos
Publicado en:BMJ Case Rep
Autores principales: Loo, Benny Kai Guo, Batilando, Melissa Jeanne, Tan, Ene Choo, Koh, Mark Jean Aan
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Publishing Group 2018
Materias:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Acceso en línea: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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