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
Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms.
Schmit M et al.
International Journal of Molecular Sciences, 2021
33477564 (PubMed )
Supplement: ijms-22-00911-s001.zip › Updated_Supplementary_Tables_011721 › Supplementary_Table_S1_final_version.xlsx › MGS
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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