Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
Abstract Background Incontinentia pigmenti (IP) is an X-liked dominant genodermatosis caused by mutations of the IKBKG/NEMO gene. IP is mostly lethal in males in utero, and only very rare male cases with a somatic mosaic mutation or a 47,XXY karyotype have been reported. Case presentation We here re...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2022-06-01T00:00:00Z.
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