Fig. 1 | Journal of Human Genetics

Fig. 1

From: Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate

Fig. 1

Patient’s brain magnetic resonance imaging (MRI), photograph and the identified NEDD4L mutation. Brain MRI was acquired at 8 months of age. Her parents gave written consent for publication of the photograph. (a) Axial slice of T1-weighted image showing bilateral periventricular nodular heterotopia (arrow head) and polymicrogyria (arrow). (b) Photograph of the patient taken at 3 years of age showing distinctive facies. (c) Sanger sequencing of the NEDD4L mutation. The patient has a heterozygous c.2617 G > A mutation (arrow) not present in the parents. (d) Previously published mutations in the HECT domain of NEDD4L associated with periventricular nodular heterotopia (red arrows, below) and our patient’s mutation (blue arrow, above). A full color version of this figure is available at the Journal of Human Genetics journal online

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