Review of recurrently mutated genes in craniosynostosis supports expansion of diagnostic gene panels
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, over 60 genes are known to be recurrently mutated, thus comprising a l...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
MDPI
2023
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