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Figure 1 | BMC Genomics

Figure 1

From: Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

Figure 1

Pedigree with segregation of OBSL1 c.1273insA variant (p.T425nfsX40) in four elective terminations. Individuals 1-5 were genotyped with high-resolution SNP microarray analysis with subsequent homozygosity mapping. Individuals 3 and 4 underwent whole exome sequencing. Individuals 6 and 7 underwent targeted variant testing in the clinical diagnostic laboratory.

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