Associated Papers
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E et al.
Journal of Medical Genetics, 2022
33436522 (PubMed )
Supplement: jmedgenet-2020-107459supp001.pdf
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Supplementary_Tables_and_Figures-0226.DOCX
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
36118902 (PubMed )
Supplement: DataSheet1.XLSX › TableS2
A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra.
Wu Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2021
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