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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Bibliographic Details
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.
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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