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Fig. 1

ID: ZDB-IMAGE-250110-168
Source: Figures for Singh et al., 2024

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Figure Caption

Fig. 1 Pedigrees and Sanger chromatograms.

A Pedigree of the family 1 and B family 2 depicting consanguinity and affected probands with kyphomelic dysplasia. C Sanger chromatograms in family 1 show the variant c.448G>A in homozygous state in both affected siblings, heterozygous state in their parents and absent in their unaffected sibling. D Chromatograms of family 2 confirm the variant c.779_786delG>A in homozygous state in proband 3 and heterozygous state in her parents.

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 @ Eur. J. Hum. Genet.