“Inherited In-Frame CHD3 Variant Linked to Severe Neurocognitive Symptoms in Siblings”

https://pubmed.ncbi.nlm.nih.gov/38116750

Two siblings with severe neurocognitive symptoms carry a likely pathogenic, inherited in-frame insertion variant in the CHD3 gene, distinct from Snijders Blok-Campeau syndrome caused by CHD3 heterozygous variants.