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Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review

3 Oct 2022

Abstract excerpt

BACKGROUND: Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature concerning 1q43q44 deletions of varying sizes discovered using chromosomal microarrays. This disorder is distinguished by global developmental delay, seizures, hypotonia, corpus callosum defects,...

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PMID: 36192753
DOI: 10.1186/s13039-022-00620-2

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