FIGURE

Figure 1

ID

ZDB-FIG-251127-9

Publication

Nauth et al., 2025 - CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection

Other Figures

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Figure 1

Family pedigrees.

The respective identified CDKL1 variant and current age (in years) is given. (A) Family 1. Patients P1, P2, and P3 with a TAAD spectrum disorder were used for the identification of CDKL1 as candidate disease gene. U1, unaffected brother of the index. (B) Family 2. Patients P4 and P5 with Marfan syndrome–like features. (C) Family 3. Patient P6 with aortic dissection.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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