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Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis
Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms. Skin abnormalities are described in about 20% of the congenital disorders of gly...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693085/ https://www.ncbi.nlm.nih.gov/pubmed/34956305 http://dx.doi.org/10.3389/fgene.2021.719624 |