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...

Descripción completa

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

Internet

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

Ejemplares similares