FIGURE

Fig. 1

ID
ZDB-FIG-240730-1
Publication
Roychaudhury et al., 2024 - SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability
Other Figures
All Figure Page
Back to All Figure Page
Fig. 1

Pedigree of Family 1 demonstrating X-linked pattern of inheritance. (A) The first variant in the SRPK3 gene (c.475C > G; p.H159D) was identified in 5 affected males (F1:II-1, F1:III-3, F1:III-4, F1:III-5, F1:III-7) from a well-established X-linked intellectual disability (XLID) family. (B) Photographs of 4 (F1:II-1, F1:III-4, F1:III-5, F1:III-7) affected males. (C) Brain imaging were performed on 4 of the 5 affected males. A representative MRI image of the patient F1:III-4, demonstrating a dilatation of the occipital horns.

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 @ Ann. Neurol.