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
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME et al.
Jci Insight, 2022
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