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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/...

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Detalles Bibliográficos
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