Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing

Familial patellar dislocation and concomitant short stature due to a loss of function in ACAN gene detected by nanopore long-read sequencing

Abstract We reported the use of PCR-free nanopore long-read DNA sequencing to identify the disruption of ACAN gene function subsequent to apparently balanced chromosomal translocation involving chromosomes 15 and 20. This low-depth whole genome long-read sequencing has yielded 12.2-Gbp sequencing re...

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Bibliographic Details
Main Authors: Lisa L. P. Siu, Henry C. M. Leung, Stephanie K. L. Ho, Shirley S. W. Cheng, Tak-wah Lam, Ivan F. M. Lo, Ho-ming Luk
Format: Article
Language:English
Published: Springer 2025-08-01
Series:Journal of Rare Diseases
Subjects:
ACAN
Familial
Recurrent patellar dislocation
Short stature
Online Access:https://doi.org/10.1007/s44162-025-00111-z
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https://doi.org/10.1007/s44162-025-00111-z

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