A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly

Human Genetics 2026

View at publisher
Authors: Debora Tibbe, Tess Holling, Michael Spohn, Malik Alawi, Sheela Nampoothiri, Kerstin Kutsche
DOI: 10.1007/s00439-025-02813-2
Cited by: 1
References: 72

Fields of Study & Subjects

RNA Research and Splicing Genomics and Rare Diseases Genetic Syndromes and Imprinting

Publication details

Journal / source
Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
145
Issue
1
Publication date
27 February 2026
Language
EN