Fig. 1

ABiallelic deletion of the Exon 13–19 in the ZFYVE26 gene in the Patient 3. B Biallelic deletion of exons 13 to 24 in the COL7A1 gene was in Patient 4. C Biallelic deletion of the Exon 4 in the AP4S1 gene in the patient 9 and affected siblings. D Biallelic deletion of the Exon 19 in the RPGRIP1 gene in the Patient 10.