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)
Fig. 3 | Orphanet Journal of Rare Diseases
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)
Orphanet Journal of Rare Diseases