Article

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

2025-01-30

Abstract excerpt

<title>Abstract</title> <p>Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical testing in whom long-read sequencing identified causal variants. Concurrent methylation analysis explained disease severity in one individual who died from neurologic com...

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Literature Corpus work: 0d4d6bfd-a446-5c01-9390-a9c7bbba7d90
DOI: 10.21203/rs.3.rs-5811417/v1

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