Associated Papers
Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.
Mak CCY et al.
Ebiomedicine, 2025
Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
Hodapp M et al.
American Journal of Medical Genetics. Part A, 2023
Novel truncating variant of MN1 penultimate exon identified in a Chinese patient with newly recognized MN1 C-terminal truncation syndrome: Case report and literature review.
Zhao A et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2022
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Vegas N et al.
Brain : a Journal of Neurology, 2021
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