Article
Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.
BMC pediatrics - 8 Jul 2023
Yang Lin, Wu GuangSheng, Yin HuiMei, Pan MengLan, Zhu YaFei
Abstract excerpt
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, accurate prognostic advice cannot be provided to patients with the disease. CASE PRESENTATION: We report a 2-year-old...
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