Deletion in COL4A2 is associated with a three-generation variable phenotype: from fetal to adult manifestations.
Hausman-Kedem M, Ben-Sira L, Kidron D, Ben-Shachar S, Straussberg R, Marom D, Ponger P, Bar-Shira A, Malinger G, Fattal-Valevski A. Eur J Hum Genet. 2021 Nov; 29(11):1654-1662. Epub 2021 Apr 9.