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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: 47 patients with FLNA associated periventricular nodular heterotopia

Fig. 3

a-c cMR imaging of 11 year old female patient 37 with complex FLNA associated phenotype including severe connective tissue disorder with gastrointestinal, cardiac and vascular manifestation, resulting from heterozygous C-terminal FLNA frameshift mutation c.7840dupT. a and b extended cortexisodense PVNH bilaterally; (b) white matter abnormalities and (c) large mega cisterna magna

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