A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.
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| Title: | A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments. |
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| Authors: | Li, Qing1 (AUTHOR), Wu, Yichi1 (AUTHOR), Meng, Fucheng1 (AUTHOR), Li, Zhuxi1 (AUTHOR), Zhan, Di1 (AUTHOR), Luo, Xiaoping1,2 (AUTHOR) xpluo@tjh.tjmu.edu.cn |
| Source: | Orphanet Journal of Rare Diseases. 12/18/2024, Vol. 19 Issue 1, p1-13. 13p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17501172 |
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| DOI: | 10.1186/s13023-024-03430-4 |
