A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

We report here a de novo missense variant in HIST1H4J resulting in a complex syndrome combining growth delay, microcephaly and intellectual disability. Trio whole exome sequencing (WES) revealed that the proband was heterozygous for a de novo c.274 A > G p.(K91E) variant in HIST1H4J, a gene not y...

Descripción completa

Detalles Bibliográficos
Autores principales: Tessadori, Federico, Rehman, Atteeq U., Giltay, Jacques C., Xia, Fan, Streff, Haley, Duran, Karen, Bakkers, Jeroen, Lalani, Seema R., van Haaften, Gijs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2019
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171094/
https://www.ncbi.nlm.nih.gov/pubmed/31804630
http://dx.doi.org/10.1038/s41431-019-0552-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171094/
https://www.ncbi.nlm.nih.gov/pubmed/31804630
http://dx.doi.org/10.1038/s41431-019-0552-9

Ejemplares similares