Investigation of (Epi)genetic causes in syndromic short children born small for gestational age

In conclusion, a high (55.2%) diagnosis rate was achieved through the utilization of CMA, epigenetic and WES analyzes; 15 rare syndromes were defined, who were born with SGA and had atypical and/or mild dysmorphic findings. This study not only drew attention to the association of some rare syndromes with SGA, but also introduced novel genes and CNVs as potential contributors to syndromic SGA.PMID:37758162 | DOI:10.1016/j.ejmg.2023.104854

Source: European Journal of Medical Genetics - September 27, 2023 Category: Genetics & Stem Cells Authors: Beyhan T üysüz B üşra Kasap Dilek Uluda ğ Alkaya Zeynep Alp Ünkar P ınar Köseoğlu Filiz Geyik Emre Özer Hasan Önal Alper Gezdirici Oya Ercan Source Type: research