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Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report
RATIONALE: Periventricular nodular heterotopia-7 (PVNH7) is a neurodevelopmental disorder associated with improper neuronal migration during neurogenesis in cortex development caused by pathogenic variants in the NEDD4L gene. PATIENT CONCERNS: We report the case of a polystigmatized 2-year-old boy h...
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| Publicado en: | Medicine (Baltimore) |
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| Autores principales: | , , , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Lippincott Williams & Wilkins
2021
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8183750/ https://ncbi.nlm.nih.gov/pubmed/34087865 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000026136 |
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