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COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
The COL4A1 gene (COL4A1) plays an important role in vascular basement membrane function and pathogenic mutations have been reported in mice and humans. The gene is expressed mainly in the human brain, eyes and kidneys. Pathogenic mutations result in a vast array of manifestations that can present th...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954152/ https://www.ncbi.nlm.nih.gov/pubmed/33737780 http://dx.doi.org/10.4103/ijri.IJRI_274_20 |