The Spondylocarpotarsal Synostosis Syndrome Case with Ventricular Septal Defect Caused by a Homozygous Frameshift Variation in FLNB

Autor: Dirimtekin, Esra, Ates, Esra Arslan, Polat, Hamza, Almus, Eda, Geckinli, Bilgen B.
Zdroj: Journal of Pediatric Genetics; 20240101, Issue: Preprints
Databáze: Supplemental Index