De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications
Abstract Beckwith–Wiedemann spectrum (BWSp) is a genomic imprinting disorder characterized by a wide range of clinical features. Here we report an infant with BWSp and atypical features, for whom long-read sequencing confirmed a de novo CDKN1C variant that occurred on the maternally inherited allele...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2025-05-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-025-00316-0 |
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