Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
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DOI: 10.3390/genes14030615
Abstract: Craniosynostosis, the premature fusion of the cranial sutures, affects ~1 in 2000 children. Although many patients with a genetically determined cause harbor a variant in one of just seven genes or have a chromosomal abnormality,… read more here.
Keywords: recurrently mutated; craniosynostosis; gene panels; review recurrently ... See more keywords