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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Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2024-04-01
coleção:	Brain and Behavior
Assuntos:	15q11–q13 duplication syndrome (Dup15q syndrome) Angelman syndrome chromosome 15q11–q13 region Prader–Willi syndrome
Acesso em linha:	https://doi.org/10.1002/brb3.3437
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