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...

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Xehetasun bibliografikoak
Argitaratua izan da:Genet Med
Egile Nagusiak: Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M. A., Koelling, Nils, McGowan, Simon J., Phipps, Julie M., Balasubramanian, Meena, Cunningham, Michael L., Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E. V., Shears, Deborah, Weber, Astrid, Wilson, Louise C., Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A., Twigg, Stephen R. F., Mathijssen, Irene M. J., Boardman-Pretty, Freya, Boyadjiev, Simeon A., Wilkie, Andrew O. M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group US 2020
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC7462747/
https://ncbi.nlm.nih.gov/pubmed/32499606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-0817-2
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