- Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3
Schaida Schirwani et al, 2021, American Journal of Medical Genetics Part A CrossRef - Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease
Fang Fu et al, 2021, Human Genetics CrossRef - ASXL3‐related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism
Emily Woods et al, 2024, Clinical Genetics CrossRef - Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report
Jin-Rong Li et al, 2020, World Journal of Clinical Cases CrossRef