FIGURE

Fig. 1

ID

ZDB-FIG-201126-1

Publication

Farooq et al., 2020 - RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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