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Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
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,...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774836/ https://www.ncbi.nlm.nih.gov/pubmed/35052418 http://dx.doi.org/10.3390/genes13010078 |
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