Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders
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DOI: 10.1136/jmedgenet-2020-107459
Abstract: Pathogenic heterozygous SIX1 variants (predominantly missense) occur in branchio-otic syndrome (BOS), but an association with craniosynostosis has not been reported.We investigated probands with craniosynostosis of unknown cause using whole exome/genome (n=628) or RNA (n=386) sequencing,… read more here.
Keywords: six1 variants; role six1; craniosynostosis; six1 ... See more keywords