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. Author manuscript; available in PMC: 2022 Sep 2.
Published in final edited form as: Nat Rev Dis Primers. 2021 Jun 17;7(1):42. doi: 10.1038/s41572-021-00276-z

Figure 4. Phenotypic consequences of deleting key genes in the Williams syndrome critical region.

Figure 4.

Putative or elucidated genotype–phenotype relationships for six genes in the Williams syndrome critical region (WSCR) are depicted, including elastin (ELN), general transcription factor II-I (GTF2I), BAZ1B, LIM domain kinase 1 (LIMK1), syntaxin 1A (STX1A) and carbohydrate-responsive element-binding protein (ChREBP). Phenotypes in mouse models and in individuals with Williams syndrome are indicated for ELN and the GTF2I genes because, presently, their mechanisms of action are best delineated and they offer the best targets for therapy.

Note: Figure 4 was redrawn by the Nature Reviews Disease Primers art editor and permission for reproduction of the final figure was not granted by the publisher. This version was designed using BioRender. This material is labeled as Fig. 3 in the published version of the paper DOI: 10.1038/s41572-021-00276-z