Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
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DOI: 10.1038/s41431-021-00988-6
Abstract: Craniosynostosis is a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development. The resulting changes in… read more here.
Keywords: fuz arg284pro; gene; novel variant; craniosynostosis ... See more keywords