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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Genetic analysis of 55 cases with fetal skeletal dysplasia

Fig. 3

COL2A1 variant caused severe type 2 collagenopathy in case 42 and mother (II2). A The image of US examination of case 42 revealed short limbs. B, C Clinical photograph of the mother with her pelvis inclined on the left side, shortened left lower limb (before extension osteotomy), and shortened fourth toe in the left foot (arrow). D The pedigree map of case 42. E, F Sanger sequencing of case 42 and the mother (II2). G The variant allele fraction and depth of coverage of the COL2A1 pathogenic variant detected by WES in case 42 and the mother. H The variant (COL2A1 c.2303G > T) was highly conserved across different species

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