Cargando…
A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features
This review describes the clinical criteria of developmental delay (DD)/intellectual disability (ID) as well as the various techniques that are currently implemented to diagnose neurodevelopmental disorders that typically present with associated dysmorphic features such as Angelman syndrome, Prader-...
Autores principales: | Vickers, Ramiah R, Gibson, Jane S |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420327/ https://www.ncbi.nlm.nih.gov/pubmed/30899624 http://dx.doi.org/10.7759/cureus.3873 |
Ejemplares similares
-
Editorial: Developmental delay and intellectual disability
por: Banerjee, Santasree, et al.
Publicado: (2022) -
First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features
por: Straniero, Letizia, et al.
Publicado: (2018) -
De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features
por: Webster, Emily, et al.
Publicado: (2016) -
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
por: Xiang, Jingjing, et al.
Publicado: (2021) -
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
por: Tanaka, Akemi J., et al.
Publicado: (2016)