Article
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
Genes - 28 Dec 2021
Maia Nuno, Nabais Sá Maria João, Oliveira Cláudia, Santos Flávia, Soares Célia Azevedo, Prior Catarina, Tkachenko Nataliya, Santos Rosário, de Brouwer Arjan P M, Jacome Ariana, Porto Beatriz, Jorge Paula
Abstract excerpt
We describe an infant female with a syndromic neurodevelopmental clinical phenotype and increased chromosome instability as cellular phenotype. Genotype characterization revealed heterozygous variants in genes directly or indirectly linked to DNA repair: a de novo X-linked HDAC8 pathogenic variant, a paternally inherited FANCG pathogenic variant and a maternally inherited BRCA2 variant of uncertain significance....
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