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
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Burrage LC et al.
American Journal of Human Genetics, 2015
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