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Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of NRXN3 and NEDD4L Deletions

Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wide identification of copy number variations (CNVs)...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Çebi, Alper Han, Altıner, Şule
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2020
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7675229/
https://ncbi.nlm.nih.gov/pubmed/33224013
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000509645
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