Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a...
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
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London: BioMed Central Ltd
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English
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London: BioMed Central Ltd
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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 report a case of an IKBKG gene deletion in a female infant pr...
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Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_86dbe6043c734cb79cb67d6bcb4c7426
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_86dbe6043c734cb79cb67d6bcb4c7426
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ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-022-03444-6
