Fig. 1: Pedigrees and Sanger chromatograms.
From: Biallelic variants in CCN2 underlie an autosomal recessive kyphomelic dysplasia
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.
