Clinical utility gene card: for incontinentia pigmenti
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DOI: 10.1038/s41431-019-0463-9
Abstract: Incontinentia pigmenti (IP) is an X-linked dominant disease, generally lethal in males, caused by variants of the IKBKG/ NEMO gene (NM_001099856.4), which encodes for IKKgamma/NEMO, essential for NF-κB activation [1–3]. Although the classic IP phenotype… read more here.
Keywords: ikbkg nemo; gene; incontinentia pigmenti; nemo gene ... See more keywords