Cargando…
Identification of Extremely Rare Pathogenic CNVs by Array CGH in Saudi Children with Developmental Delay, Congenital Malformations, and Intellectual Disability
Chromosomal imbalance is implicated in developmental delay (DD), congenital malformations (CM), and intellectual disability (ID), and, thus, precise identification of copy number variations (CNVs) is essential. We therefore aimed to investigate the genetic heterogeneity in Saudi children with DD/CM/...
Autores principales: | Karim, Sajjad, Hussein, Ibtessam Ramzi, Schulten, Hans-Juergen, Alsaedi, Saad, Mirza, Zeenat, Al-Qahtani, Mohammed, Chaudhary, Adeel |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10136417/ https://www.ncbi.nlm.nih.gov/pubmed/37189911 http://dx.doi.org/10.3390/children10040662 |
Ejemplares similares
-
Application of array comparative genomic hybridization (array- CGH) for detection of chromosomal imbalances in children with developmental delay/congenital malformations in Saudi Arabia
por: Hussein, Ibtessam Ramzi, et al.
Publicado: (2014) -
High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males
por: Krausz, Csilla, et al.
Publicado: (2012) -
Multiple samples aCGH analysis for rare CNVs detection
por: Sykulski, Maciej, et al.
Publicado: (2013) -
Copy-Number Variations Observed in a Japanese Population by BAC Array CGH: Summary of Relatively Rare CNVs
por: Satoh, Yasunari, et al.
Publicado: (2012) -
Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis
por: Ferlini, Alessandra, et al.
Publicado: (2010)