Expanding what we know about rare genetic diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-023-01453-2.pdf
Reference12 articles.
1. Terradas M, Gonzalez-Abuin N, García-Mulero S, Viana-Errasti J, Aiza G, Piulats JM, et al. MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01418-5.
2. Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, et al. Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01437-2.
3. Kesim Y, Ceroni F, Damián A, Blanco-Kelly F, Ayuso C, Williamson K, et al. Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01342-8.
4. Hadar N, Schreiber R, Eskin-Schwartz M, Kristal E, Shubinsky G, Ling G, et al. X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-022-01278-5.
5. Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, et al. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01434-5.
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