SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
<p><strong>Purpose</strong> 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 nearBMP2 (rs1884302) was proposed to contribute to inc...
Main Authors: | Calpena, E, Cuellar, A, Bala, K, Koelling, N, McGowan, S, Twigg, S, Wilkie, A, Et al. |
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Format: | Journal article |
Language: | English |
Published: |
Springer Nature
2020
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