Additional file 2 of Gene conversion in incontinentia pigmenti: a Chinese case series
Supplementary Material 2. Supplementary materials: Raw data of molecular findings. Patient 32: Germline c.519-3_519dup in both IKBKG and IKBKGP1. Patient 32’s father: Germline c.519-3_519dup in only IKBKGP1. Patient 33: Germline c.519-3_519dup in both IKBKG and IKBKGP1. Patient 33’s father: Germline c.519-3_519dup in only IKBKGP1. Patient 35: Germline c.1167dup in both IKBKG and IKBKGP1. Patient 35’s father: Germline c.1167dup in only IKBKGP1. Patient 38: Germline exon 4-10 deletion in both IKBKG and IKBKGP1. Patient 38’s father: Germline exon 4-10 deletion only detected in IKBKGP1. Patient 38’s father: Germline exon 4-10 deletion only detected in IKBKGP1. Patient 40: exon 4-10 deletion in both IKBKG and IKBKGP1 (mosaic state) in buccal swab. Patient 43: Germline and buccal swab c.519-3_519dup in only IKBKGP1. Patient 44: Germline with c.519-3_519dup and c.766C>T (in-cis) in only IKBKGP1. Patient 46: Germline c.519-3_519dup in only IKBKGP1.
Publication Details
- Journal
- Figshare
- Published
- 2025-01-01
- DOI
- https://doi.org/10.6084/m9.figshare.29334179.v1
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00