SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Autor: 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.
Zdroj: In Genetics in Medicine September 2020 22(9):1498-1506
Databáze: ScienceDirect
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