First report of the c.869G > A (p.Arg290His) variant in homozygosity trisomy 21patient: Dilemmas for follow up

Molecular Genetics and Metabolism 2026

View at publisher
Authors: Vinicius L. Ferraz, Fabiano de Oliveira Poswar, Kristiane Michellin Tirelli, Emilly Ataide, Fernanda Medeiros Sebastião, Ida Vanessa Döederlein Schwartz
DOI: 10.1016/j.ymgme.2025.109410
Cited by: 0

Fields of Study & Subjects

Genomics and Rare Diseases Down syndrome and intellectual disability research Alzheimer's disease research and treatments

Publication details

Journal / source
Molecular Genetics and Metabolism
Volume
147
Issue
2
Pages
109410–109410
Publication date
1 February 2026
Language
EN