Imprinting disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
https://www.nature.com/articles/s41572-023-00443-4.pdf
Reference207 articles.
1. Mackay, D. J. G. & Temple, I. K. Human imprinting disorders: principles, practice, problems and progress. Eur. J. Med. Genet. 60, 618–626 (2017).
2. Nakamura, A. et al. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J. Med. Genet. 55, 567–570 (2018).
3. Lazier, J., Martin, N., Stavropoulos, J. D. & Chitayat, D. Maternal uniparental disomy for chromosome 6 in a patient with IUGR, ambiguous genitalia, and persistent Mullerian structures. Am. J. Med. Genet. A 170, 3227–3230 (2016).
4. Kagami, M. et al. ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance. Clin. Epigenetics 13, 119 (2021).
5. Eggermann, T. et al. Growth restriction and genomic imprinting-overlapping phenotypes support the concept of an imprinting network. Genes 12, 585 (2021).
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