A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review

Gene 2026

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Authors: Firoz Ahmad, Sapna Sandal, Alec Reginald Errol Correa, Murali Krishna, Sowmya Sabnavis, Syeda Kulsum, Amisha Shah, Meenu Angi, Pooja S. Chaudhary, Spandan A. Chaudhary, Neeraj Arora
DOI: 10.1016/j.gene.2026.150054
Cited by: 0
References: 17

Fields of Study & Subjects

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Gene
Volume
991
Pages
150054–150054
Publication date
14 February 2026
Language
EN