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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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Loo, Benny Kai Guo, Batilando, Melissa Jeanne, Tan, Ene Choo, Koh, Mark Jean Aan
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2018
Assuntos:
Findings That Shed New Light on the Possible Pathogenesis of a Disease or an Adverse Effect
Acesso em linha: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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