ZFIN Image: Farooq et al., 2020, Fig. 1

Image

Figure Caption

Fig. 1 <italic>RRP7A</italic> is associated with MCPH.

a Five-generation pedigree of a consanguineous Pakistani family with ten affected individuals (black-filled symbols). STR and single-nucleotide polymorphism marker haplotypes of all analyzed individuals are shown below each symbol. Diseased haplotype is marked as filled black bar. b Cerebral MRI scans of patient V-14, presenting with microcephaly and slanting forehead. c DNA sequence of homozygous control, heterozygous carrier and homozygous patient with c.465 G > C (p.W155C) mutation in exon 5 of RRP7A.

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 @ Nat. Commun.