FIGURE

Fig. 1

ID

ZDB-FIG-211119-3

Publication

Ziegler et al., 2021 - Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

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Fig. 1

Clinical features of affected individuals (A) CT scan showing dilated aortic root and thoracic aorta (TA), calcified asymmetric large femoral arteries (FA), calcified and dilated abdominal aorta (AA), and large renal cyst (white star) in individual 1. (B) CT scan showing emphysema of the apex of the left lung in individual 1. (C) Proptosis, micrognathia, and hypertelorism in individuals 3, 4, and 10. (D) X-ray showing scoliosis in individuals 1 and 7. (E) Arachnodactyly in individuals 3 and 7. (F) Hyperlaxity of small and large joints in individuals 10 and 7. (G) Pes planus and talipes equinovarus in individuals 10 and 3, respectively. (H) Skin hyperextensibility in individuals 4, 7, and 10 and umbilical hernia in individual 5.

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.