Title: De novo ACTG1 variant expands phenotype and genotype of partial deafness and Baraitser-Winter syndrome
Authors: Dawidziuk Mateusz, Kutkowska-Kazmierczak Anna, Bukowska-Olech Ewelina, Jurek Marta, Kalka Ewa, Guilbride D. Lys, Furmanek Mariusz Ireneusz, Bekiesinska-Figatowska Monika, Bal Jerzy, Gawlinski Pawel
Journal: International Journal of Molecular Sciences
Publication type: article
DOI: 10.3390/ijms23020692