Heterozygous deletion of 10q24.31-q24.33– a new syndrome associated with multiple congenital anomalies: case report and literature review

Heterozygous deletion of 10q24.31-q24.33– a new syndrome associated with multiple congenital anomalies: case report and literature review

Abstract Background Congenital anomalies and neurodevelopmental disorders are complex conditions often requiring comprehensive diagnostic approaches. Next-generation sequencing (NGS), particularly whole-exome sequencing (WES), has greatly improved the detection of pathogenic variants, including copy...

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Main Authors: Anastasiia A. Buianova, Yulia S. Lashkova, Tatiana V. Kulichenko, Ivan S. Kuznetsov, Artem A. Ivanov, Olga P. Parshina, Oleg N. Suchalko, Svetlana S. Vakhlyarskaya, Dmitriy O. Korostin
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Neurological Research and Practice
Subjects:
Deletion
Copy number variation
Whole-exome sequencing
Developmental delay
Multiple congenital anomalies
Online Access:https://doi.org/10.1186/s42466-025-00378-z
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https://doi.org/10.1186/s42466-025-00378-z

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