Associated Papers
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
37154149 (PubMed )
Supplement: mmc1.xlsx › Sheet1
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32499606 (PubMed )
Supplement: 41436_2020_817_MOESM5_ESM.xlsx › Table_S4
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