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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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Detalles Bibliográficos
Autores principales:	Pecimonova, Martina, Radvanszky, Jan, Smolak, David, Budis, Jaroslav, Lichvar, Michal, Kristinova, Diana, Rozova, Ivica, Turna, Jan, Szemes, Tomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8183750/ https://www.ncbi.nlm.nih.gov/pubmed/34087865 http://dx.doi.org/10.1097/MD.0000000000026136

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