Figure 2:

A) Integrative genomic viewer showing absence of reads of exons 3 and 4 in FUCA1 B) qPCR analysis depicting homozygous deletion in proband and heterozygous deletion in the parents in FUCA1

A) Integrative genomic viewer showing absence of reads of exons 3 and 4 in FUCA1 B) qPCR analysis depicting homozygous deletion in proband and heterozygous deletion in the parents in FUCA1