Fig. 3

BAM and Sanger sequence traces showing COL1A1 c.3652G > A variant: heterozygous in the two affected children (II-1, II-4) with skeletal phenotype and mosaic in the father (I-1)
BAM and Sanger sequence traces showing COL1A1 c.3652G > A variant: heterozygous in the two affected children (II-1, II-4) with skeletal phenotype and mosaic in the father (I-1)