IMAGE

Fig 1

ID: ZDB-IMAGE-191230-1267
Source: Figures for Chen et al., 2019

Image

Figure Caption

Fig 1 Identification of potential causative mutation by whole exome sequencing.

(A), Family pedigree. Filled symbol indicates individual suffering from non-syndromal primary microcephaly and intellectual disability. (B), Traditional Sanger sequencing validated the identified SNRPE/SmE mutation (c.65T>C (p.Phe22Ser)). The red box labels the de novo heterozygous mutation. (C), Alignment of SNRPE/SmE protein sequences across different species. The red rectangle indicates the mutated residue.

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ PLoS Genet.