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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: 47 patients with FLNA associated periventricular nodular heterotopia

Fig. 2

a High grade mosaic FLNA mutation c.7055_7070delCTTTTGCAGTCAGCCT in peripheral blood (upper sequence) of a 36 year old male patient 29 with normal male karyotype 46,XY, resulting in the nonsense mutation p.Ser2352*, novel stop codon boxed. Wildtype sequence of the healthy mother below. bd cerebral MR imaging demonstrating extended PVNH bilaterally (b and c), diffuse white matter abnormalities and inward rotated anterior ventricular horns (c), hypoplastic corpus callosum and large mega cisterna magna (d)

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