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A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris
Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmen...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10509338/ https://www.ncbi.nlm.nih.gov/pubmed/37736478 http://dx.doi.org/10.1002/ccr3.7910 |