Associated Papers
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.
Mohammadi P et al.
Molecular Genetics & Genomic Medicine, 2021
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