Article
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2020
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
Abstract excerpt
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 nearBMP2 (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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.