A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.
Sibbin K, Yap P, Nyaga D, Heller R, Evans S, Strachan K, Alburaiky S, Nguyen HMA, Hermann-Le Denmat S, Ganley ARD, O'Sullivan JM, Bloomfield FH.
Sibbin K, et al. Among authors: hermann le denmat s.
Am J Med Genet A. 2022 Apr;188(4):1299-1306. doi: 10.1002/ajmg.a.62631. Epub 2021 Dec 31.
Am J Med Genet A. 2022.
PMID: 34970864
Free PMC article.