A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

BACKGROUND: Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations...

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Dettagli Bibliografici
Pubblicato in:Mol Cytogenet
Autori principali: Jiang, Huling, Ping, Zepeng, Wang, Jianguo, Liu, Xiaodan, Jin, Yuxia, Li, Suping, Zhou, Chiyan, Huang, Pinghua, Jin, Yi, Ai, Ling, Chen, Jie
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7931524/
https://ncbi.nlm.nih.gov/pubmed/33658067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-021-00532-7
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