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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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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2018
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| Assuntos: | |
| 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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