Associated Papers
A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Li Q et al.
Orphanet Journal of Rare Diseases, 2024
Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants.
Knapp KM et al.
American Journal of Medical Genetics. Part A, 2021
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