Huriez syndrome: additional pathogenic variants supporting allelism to SMARCAD syndrome

by Loh, Abigail Y. T., Špoljar, Sanja, Neo, Granville Y. W., Escande-Beillard, Nathalie, Leushacke, Marc, Luijten, Monique N. H., Venkatesh, Byrappa, Bonnard, Carine, van Steensel, Maurice A. M., Hamm, Henning, Carmichael, Andrew, Rajan, Neil, Carney, Thomas J., Reversade, Bruno
Published 2022