Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region

Abstract Background The 15q11–q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment. Genomic imprinting is an epigenetic phenomenon that causes differential gene expression based on the parent of origin. In most diploid organisms, gene exp...

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主要な著者:	Rabeya Akter Mim, Anjana Soorajkumar, Noor Kosaji, Muhammad Mizanur Rahman, Shaoli Sarker, Noushad Karuvantevida, Tamannyat Binte Eshaque, Md Atikur Rahaman, Amirul Islam, Mohammod Shah Jahan Chowdhury, Nusrat Shams, K. M. Furkan Uddin, Hosneara Akter, Mohammed Uddin
フォーマット:	Artigo
言語:	Inglês
出版事項:	Wiley 2024-04-01
シリーズ:	Brain and Behavior
主題:	15q11–q13 duplication syndrome (Dup15q syndrome) Angelman syndrome chromosome 15q11–q13 region Prader–Willi syndrome
オンライン･アクセス:	https://doi.org/10.1002/brb3.3437
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