Article

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort

2022-08-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affected individuals, is chromosomal microarray (CMA). However, this methodology is not yet a routine molecular cytogenetic test in many parts of the world, in...

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Literature Corpus work: ba57d5ae-177c-5891-aceb-c07196646a26
DOI: 10.21203/rs.3.rs-1362475/v2

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