De novo CDKN1C variant in Beckwith–Wiedermann spectrum with atypical complications

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Yuri Moriura, Yosuke Nishio, Shintaro Ichimura, Haruka Noda, Yoshihiro Tanahashi, Hikaru Yamamoto, Yuka Nakazawa, Taichi Oso, Yoshiaki Sato, Toshiki Takenouchi, Shinji Saitoh, Yukako Muramatsu, Tomoo Ogi
Format: Article
Language:English
Published: Nature Publishing Group 2025-05-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-025-00316-0
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items