Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
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
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL et al.
Nature Genetics, 2011
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Bicknell LS et al.
Nature Genetics, 2011
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