1. Ridnõi, Konstantin, Šois, Marek, Vaidla, Eve, Reimand, Tiia, Õunap, Katrin. 2019. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. In Molecular genetics & genomic medicine, 7, e614. doi:10.1002/mgg3.614. https://pubmed.ncbi.nlm.nih.gov/30851085/
2. Deng, Tianqin, Xie, Yuli. 2023. Novel homozygous mutations in TXNDC15 causing Meckel syndrome. In Molecular genetics & genomic medicine, 12, e2343. doi:10.1002/mgg3.2343. https://pubmed.ncbi.nlm.nih.gov/38156946/
3. Kuroda, Yukiko, Ikegawa, Tamaki, Kato, Ayumi, Naruto, Takuya, Kurosawa, Kenji. 2024. Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation. In Journal of human genetics, 70, 59-62. doi:10.1038/s10038-024-01290-1. https://pubmed.ncbi.nlm.nih.gov/39304719/
4. Abualsaud, Dalia, Hashem, Mais, AlHashem, Amal, Alkuraya, Fowzan S. 2020. Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes. In American journal of medical genetics. Part A, 185, 2789-2800. doi:10.1002/ajmg.a.61876. https://pubmed.ncbi.nlm.nih.gov/32949114/
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