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Fig. 1 | BMC Pediatrics

Fig. 1

From: Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children

Fig. 1

Dysmorphic features, brain MRI and exome sequencing of patient 1. a: Anterior photograph of the proband at 24-months of age. b: Lateral photograph of the proband at 24-months of age. c MRI showed the enlargement of skull anteroposterior diameter (17.6 cm). d MRI showed Increased signal in T2 in the white matter territories adjacent to the lateral ventricles and subcortical zone, and retardation of brain development. E1: Exome sequencing revealed a novel heterozygous nonsense mutations, c.2647C > A (p.E883X) in CHD8 gene which was further validated by Sanger sequencing, but not seen in his parents E2 and E3

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BMC Pediatrics

ISSN: 1471-2431

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