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Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review
BACKGROUND: Periventricular nodular heterotopia (PNH), associated with FLNA mutations, is a rare clinical condition potentially associated with multiple systemic conditions, including cardiac, pulmonary, skeletal, and cutaneous diseases. However, due to a paucity of information in the literature, ac...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10329368/ https://www.ncbi.nlm.nih.gov/pubmed/37422633 http://dx.doi.org/10.1186/s12887-023-04161-4 |