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

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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

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