2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

• Váldodahkkit: Estephania Candelo (Dahkki), Sebastian Giraldo-Ocampo (Dahkki), Julian Nevado (Dahkki), Pablo Lapunzina (Dahkki), Harry Pachajoa (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2024-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Abstract Background The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognath...