FIGURE
Fig. 1
- ID
- ZDB-FIG-250311-153
- Publication
- Buchert et al., 2025 - Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
- Other Figures
- All Figure Page
- Back to All Figure Page
Fig. 1
Pictures of individuals with KICS2 variants and the positions of the variants within the gene (A?E) Affected individuals show a short, deep philtrum, a short, broad nose, a broad nasal bridge, and a prominent forehead: (A) individual A:II-1 at age 15 years, (B) individual B:II-2 at age 16 years, (C) individual B:II-4 at age 10 years, (D) individual D:II-3 at age 7 years, and (E) individual H:II-1 at age 12 years. (F) KICS2 gene structure with the identified variants; identified missense variants are localized in highly conserved regions. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and
ZFIN has permission only to display this image to its users.
Additional permissions should be obtained from the applicable author or publisher of the image.
Full text @ Am. J. Hum. Genet.