Supplementary files to: A unique case of Bloom syndrome with a combination of genetic hits: a lesson from trio-based exome sequencing

Sanger sequencing chromatograms for the verification of ES data and variant scoring (BLM gene, c.1642C>T, c.2207_2212delinsTAGATTC) MS-MLPA results for RSS/BWS with a borderline hypermethylation H19 locus Coffalyser output for MS-MLPA RSS/BWS in proband description of MS-MLPA outputs full visualization of presented BLM gene variants (IGV software v2.8.13)