Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay

Abstract Background Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft pal...

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Bibliographic Details
Main Authors: Jianxin Tan, Mingtao Huang, Xiuqing Ji, An Liu, Fengchang Qiao, Cuiping Zhang, Lulu Meng, Yan Wang, Zhengfeng Xu, Ping Hu
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Pediatrics
Subjects:
Long read sequencing
MEIS2
Paracentric inversion
Syndromic developmental delay
Online Access:https://doi.org/10.1186/s12887-024-05267-z
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