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,...

Descripción completa

Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774836/
https://www.ncbi.nlm.nih.gov/pubmed/35052418
http://dx.doi.org/10.3390/genes13010078

Ejemplares similares