Article
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.
European journal of human genetics : EJHG - 1 Oct 2021
Arteche-López A, Álvarez-Mora M I, Sánchez Calvin M T, Lezana Rosales J M, Palma Milla C, Gómez Rodríguez M J, Gomez Manjón I, Blázquez A, Juarez Rufián A, Ramos Gómez P, Sierra Tomillo O, Hidalgo Mayoral I, Pérez de la Fuente R, Posada Rodríguez I J, González Granado L I, Martin Miguel A, Quesada-Espinosa J F, Moreno-García M
Abstract excerpt
A subset of families with co-dominant or recessive inheritance has been described in several genes previously associated with dominant inheritance. Those recessive families displayed similar, more severe, or even completely different phenotypes to their dominant counterparts. We report the first patients harboring homozygous disease-related variants in three genes that were previously associated with dominant...
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