Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

ConclusionTherefore, this report brings additional data for the genotype ‐phenotype correlations ofSMAD3 variants and the need to explore in more detail the effects of genetic modifiers that could influence the phenotype.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1132?af=R

Source: Molecular Genetics & Genomic Medicine - March 10, 2020 Category: Genetics & Stem Cells Authors: Bertrand Chesneau, Thomas Edouard, Yves Dulac, H élène Colineaux, Maud Langeois, Nadine Hanna, Catherine Boileau, Pauline Arnaud, Nicolas Chassaing, Sophie Julia, Guillaume Jondeau, Aurélie Plancke, Philippe Khau Van Kien, Julie Plaisanci� Tags: CLINICAL REPORT Source Type: research