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

ConclusionOur deep phenotypic observations identified a spectrum of clinical features that overlap and are unique to PWS, AS, and Dup15q syndromes. Our findings establish genotype –phenotype correlation for patients impacted by variable structural variations within the 15q11–q13 region.

Source: Brain and Behavior - April 15, 2024 Category: Neurology Authors: 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, Hosnea Tags: ORIGINAL ARTICLE Source Type: research