SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Purpose: Enrichment of heterozygous missense and truncating SMAD6 variants was previously reported in nonsyndromic sagittal and metopic synostosis, and interaction of SMAD6 variants with a common polymorphism near BMP2 (rs1884302) was proposed to contribute to inconsistent penetrance. We determined the occurrence of SMAD6 variants in all types of craniosynostosis, evaluated the impact of different missense variants on SMAD6 function, and tested independently whether rs1884302 genotype significantl

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (Genetics in Medicine, (2020), 10.1038/s41436-020-0817-2)

The version of the Article previously published did not acknowledge Freya Boardman-Pretty17,18 and the Genomics England Research Consortium in the author list. This has now been corrected in both the PDF and HTML versions of the Article