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Fig. 6 | Clinical Epigenetics

Fig. 6

From: Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Fig. 6

Separate evaluation of uncertain ADNP cases and those detected among unresolved patients. a, b Seven subjects with uncertain diagnoses of ADNP syndrome (yellow) together with three subjects detected in the unresolved cohort (neon green) added to the clustering analyses performed earlier in Fig. 2e and f. As expected, five of the uncertain cases are clustered with controls, one clustered with epi-ADNP-2, and one other is clustered with epi-ADNP-2 subjects (similar to the classification by our classifier). The three unresolved cases, as expected, are clustered with epi-ADNP-1 group. All of these cases show a DNA methylation pattern consistent with their respected predicted category. c The updated list of causative variants detected in ADNP syndrome following the assessment of unresolved/suspected subjects is illustrated in the ADNP protein

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