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
Controls
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article

Additional file 2 of Gene conversion in incontinentia pigmenti: a Chinese case series

Figshare
Genetic and rare skin diseases.
article

Additional file 2 of Gene conversion in incontinentia pigmenti: a Chinese case series

article en

Abstract

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.

Figshare
Openalex Percentile: Top 47%
Genetic and rare skin diseases.
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