Article

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

2023-12-07

Abstract excerpt

<title>Abstract</title> <p>Copy number variants (CNVs) represent the genetic cause of about 15–20% of neurodevelopmental disorders (NDDs). We identified a ~ 67 kb <italic>de novo</italic> intragenic deletion on chromosome 2q22.3 in a female individual showing a developmental encephalopathy characterized by epilepsy, severe intellectual disability, speech delay, microcephaly, and thin corpus callosum with facial d...

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Literature Corpus work: 2afa354e-47d3-5efa-9c06-c270e1cdf7e4
DOI: 10.21203/rs.3.rs-3681081/v1

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