Fig. 3 | Journal of Human Genetics

Fig. 3

From: Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer–Giedion syndrome and Cornelia de Lange syndrome-4

Fig. 3The alternative text for this image may have been generated using AI.

Deletion of RAD21-EXT1 but not TRPS1. a Five reported patients have deletions (black bars) disrupting RAD21 and EXT1. This patient also has deletions (red bars) in the same region. b Quantitative RT-PCR shows decreased expression of RAD21 and EXT1. The expression level of TRPS1 is not altered. Error bars: standard deviations from three experiments. Controls are three different individuals without the same disease

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