FIGURE

Fig. 1

ID

ZDB-FIG-250110-168

Publication

Singh et al., 2024 - Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia

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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.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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