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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...

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Detalles Bibliográficos
Autores principales: Yang, Lin, Wu, GuangSheng, Yin, HuiMei, Pan, MengLan, Zhu, YaFei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
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